Canonical Allele Identifier: CA2612661979

Gene: ABCC8

Linked Data

• dbSNP Id: rs2133471753
• gnomAD v4: 11-17413008-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17413008A>G , CM000673.2:g.17413008A>G	GRCh38
NC_000011.9:g.17434555A>G , CM000673.1:g.17434555A>G	GRCh37
NC_000011.8:g.17391131A>G	NCBI36
NG_008867.1:g.68895T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2145-262T>C
ENST00000529967.6:n.735-262T>C
ENST00000642611.2:n.2545-262T>C
ENST00000682051.1:n.2492-262T>C
ENST00000682110.1:n.2545-262T>C
ENST00000682140.1:c.2473-262T>C	ENSP00000507829.1:n.2473-262T>C
ENST00000682185.1:n.3781-262T>C
ENST00000682204.1:c.*614-262T>C	ENSP00000507094.1:n.*614-262T>C
ENST00000682215.1:n.2542-262T>C
ENST00000682288.1:c.*907-262T>C	ENSP00000507506.1:n.*907-262T>C
ENST00000682442.1:n.2666-262T>C
ENST00000682528.1:n.2542-262T>C
ENST00000682673.1:n.2489-262T>C
ENST00000682805.1:n.2542-262T>C
ENST00000682965.1:c.2473-262T>C	ENSP00000508229.1:n.2473-262T>C
ENST00000683093.1:n.2644-262T>C
ENST00000683136.1:c.2473-262T>C	ENSP00000507768.1:n.2473-262T>C
ENST00000683153.1:n.2701-262T>C
ENST00000683365.1:n.2647-262T>C
ENST00000683377.1:n.2545-262T>C
ENST00000683456.1:c.2476-262T>C	ENSP00000508318.1:n.2476-262T>C
ENST00000683522.1:n.2545-262T>C
ENST00000683562.1:c.*645-262T>C	ENSP00000508265.1:n.*645-262T>C
ENST00000683693.1:n.2542-262T>C
ENST00000683725.1:c.2476-262T>C	ENSP00000507496.1:n.2476-262T>C
ENST00000684010.1:n.2460-262T>C
ENST00000684157.1:n.2545-262T>C
ENST00000684253.1:n.2448-262T>C
ENST00000684288.1:c.*648-262T>C	ENSP00000507143.1:n.*648-262T>C
ENST00000684313.1:n.1977-262T>C
ENST00000684332.1:n.2618-262T>C
ENST00000684371.1:n.2651-262T>C
ENST00000684404.1:n.2542-262T>C
ENST00000684442.1:n.2545-262T>C
ENST00000684555.1:c.*688-262T>C	ENSP00000507705.1:n.*688-262T>C
ENST00000684571.1:c.2317-262T>C	ENSP00000506935.1:n.2317-262T>C
ENST00000684593.1:c.*2181-262T>C	ENSP00000507005.1:n.*2181-262T>C
ENST00000684711.1:c.*872-262T>C	ENSP00000506841.1:n.*872-262T>C
ENST00000302539.9:c.2479-262T>C	ENSP00000303960.4:n.2479-262T>C
ENST00000389817.8:c.2476-262T>C MANE Select	ENSP00000374467.4:n.2476-262T>C
ENST00000642271.1:c.2473-262T>C	ENSP00000493749.1:n.2473-262T>C
ENST00000642579.1:c.560-262T>C
ENST00000642611.1:n.2430-262T>C
ENST00000642902.1:c.2311-262T>C
ENST00000643260.1:c.2476-262T>C	ENSP00000494450.1:n.2476-262T>C
ENST00000643562.1:c.*452-262T>C	ENSP00000496124.1:n.*452-262T>C
ENST00000643925.1:c.416-31T>C
ENST00000644447.1:c.832-262T>C	ENSP00000496282.1:n.832-262T>C
ENST00000644472.1:c.*837-262T>C	ENSP00000495378.1:n.*837-262T>C
ENST00000644484.1:c.*685-262T>C	ENSP00000493558.1:n.*685-262T>C
ENST00000644542.1:c.*2181-262T>C	ENSP00000495532.1:n.*2181-262T>C
ENST00000644675.1:c.*648-262T>C	ENSP00000494567.1:n.*648-262T>C
ENST00000644757.1:c.*781-262T>C	ENSP00000495085.1:n.*781-262T>C
ENST00000644772.1:c.2542-262T>C	ENSP00000494321.1:n.2542-262T>C
ENST00000645076.1:c.1728-262T>C
ENST00000645744.1:c.*840-262T>C	ENSP00000494564.1:n.*840-262T>C
ENST00000645760.1:c.2751-262T>C
ENST00000645884.1:c.2476-262T>C	ENSP00000495516.1:n.2476-262T>C
ENST00000646003.1:c.*532-262T>C	ENSP00000495259.1:n.*532-262T>C
ENST00000646207.1:c.*840-262T>C	ENSP00000495025.1:n.*840-262T>C
ENST00000646276.1:c.*749-262T>C	ENSP00000496070.1:n.*749-262T>C
ENST00000646592.1:c.1702-262T>C
ENST00000646902.1:c.2473-262T>C	ENSP00000494101.1:n.2473-262T>C
ENST00000646993.1:c.*872-262T>C	ENSP00000493720.1:n.*872-262T>C
ENST00000647013.1:c.2482-262T>C	ENSP00000496741.1:n.2482-262T>C
ENST00000647015.1:c.2227-262T>C	ENSP00000495389.1:n.2227-262T>C
ENST00000647086.1:c.*2206-262T>C	ENSP00000493677.1:n.*2206-262T>C
ENST00000647158.1:c.*617-262T>C	ENSP00000495744.1:n.*617-262T>C
ENST00000302539.8:c.2479-262T>C	ENSP00000303960.4:n.2479-262T>C
ENST00000389817.7:c.2476-262T>C	ENSP00000374467.3:n.2476-262T>C
ENST00000526921.5:n.160-262T>C
ENST00000527905.5:c.2446-262T>C	ENSP00000431653.1:n.2446-262T>C
ENST00000529967.5:n.145-262T>C
ENST00000530147.5:n.59-262T>C
ENST00000531911.1:n.590-262T>C
NM_000352.4:c.2476-262T>C	NP_000343.2:n.2476-262T>C
NM_001287174.1:c.2479-262T>C	NP_001274103.1:n.2479-262T>C
XM_011520331.1:c.2476-262T>C	XP_011518633.1:n.2476-262T>C
XM_011520332.1:c.2479-262T>C	XP_011518634.1:n.2479-262T>C
XM_011520333.1:c.976-262T>C	XP_011518635.1:n.976-262T>C
XM_011520334.1:c.2479-262T>C	XP_011518636.1:n.2479-262T>C
XR_930890.1:n.2542-262T>C
XR_930891.1:n.2542-262T>C
XR_930892.1:n.2542-262T>C
XR_930893.1:n.2539-262T>C
NM_001351295.1:c.2542-262T>C	NP_001338224.1:n.2542-262T>C
NM_001351296.1:c.2476-262T>C	NP_001338225.1:n.2476-262T>C
NM_001351297.1:c.2473-262T>C	NP_001338226.1:n.2473-262T>C
NR_147094.1:n.2545-262T>C
XM_017018197.2:c.2545-262T>C	XP_016873686.1:n.2545-262T>C
XM_017018199.1:c.2542-262T>C	XP_016873688.1:n.2542-262T>C
XM_017018201.2:c.2545-262T>C	XP_016873690.1:n.2545-262T>C
XM_017018202.1:c.1042-262T>C	XP_016873691.1:n.1042-262T>C
XM_017018204.1:c.433-262T>C	XP_016873693.1:n.433-262T>C
XM_024448668.1:c.844-262T>C	XP_024304436.1:n.844-262T>C
XR_001747945.2:n.2617-262T>C
XR_001747946.2:n.2548-262T>C
XR_002957189.1:n.2617-262T>C
NM_000352.6:c.2476-262T>C MANE Select	NP_000343.2:n.2476-262T>C
NM_001287174.2:c.2479-262T>C	NP_001274103.1:n.2479-262T>C
NM_001351295.2:c.2542-262T>C	NP_001338224.1:n.2542-262T>C
NM_001351296.2:c.2476-262T>C	NP_001338225.1:n.2476-262T>C
NM_001351297.2:c.2473-262T>C	NP_001338226.1:n.2473-262T>C
NR_147094.2:n.2545-262T>C
NM_001287174.3:c.2479-262T>C	NP_001274103.1:n.2479-262T>C