Canonical Allele Identifier: CA2612661941

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17412977-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17412977T>C , CM000673.2:g.17412977T>C	GRCh38
NC_000011.9:g.17434524T>C , CM000673.1:g.17434524T>C	GRCh37
NC_000011.8:g.17391100T>C	NCBI36
NG_008867.1:g.68926A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2145-231A>G
ENST00000529967.6:n.735-231A>G
ENST00000642611.2:n.2545-231A>G
ENST00000682051.1:n.2492-231A>G
ENST00000682110.1:n.2545-231A>G
ENST00000682140.1:c.2473-231A>G	ENSP00000507829.1:n.2473-231A>G
ENST00000682185.1:n.3781-231A>G
ENST00000682204.1:c.*614-231A>G	ENSP00000507094.1:n.*614-231A>G
ENST00000682215.1:n.2542-231A>G
ENST00000682288.1:c.*907-231A>G	ENSP00000507506.1:n.*907-231A>G
ENST00000682442.1:n.2666-231A>G
ENST00000682528.1:n.2542-231A>G
ENST00000682673.1:n.2489-231A>G
ENST00000682805.1:n.2542-231A>G
ENST00000682965.1:c.2473-231A>G	ENSP00000508229.1:n.2473-231A>G
ENST00000683093.1:n.2644-231A>G
ENST00000683136.1:c.2473-231A>G	ENSP00000507768.1:n.2473-231A>G
ENST00000683153.1:n.2701-231A>G
ENST00000683365.1:n.2647-231A>G
ENST00000683377.1:n.2545-231A>G
ENST00000683456.1:c.2476-231A>G	ENSP00000508318.1:n.2476-231A>G
ENST00000683522.1:n.2545-231A>G
ENST00000683562.1:c.*645-231A>G	ENSP00000508265.1:n.*645-231A>G
ENST00000683693.1:n.2542-231A>G
ENST00000683725.1:c.2476-231A>G	ENSP00000507496.1:n.2476-231A>G
ENST00000684010.1:n.2460-231A>G
ENST00000684157.1:n.2545-231A>G
ENST00000684253.1:n.2448-231A>G
ENST00000684288.1:c.*648-231A>G	ENSP00000507143.1:n.*648-231A>G
ENST00000684313.1:n.1977-231A>G
ENST00000684332.1:n.2618-231A>G
ENST00000684371.1:n.2651-231A>G
ENST00000684404.1:n.2542-231A>G
ENST00000684442.1:n.2545-231A>G
ENST00000684555.1:c.*688-231A>G	ENSP00000507705.1:n.*688-231A>G
ENST00000684571.1:c.2317-231A>G	ENSP00000506935.1:n.2317-231A>G
ENST00000684593.1:c.*2181-231A>G	ENSP00000507005.1:n.*2181-231A>G
ENST00000684711.1:c.*872-231A>G	ENSP00000506841.1:n.*872-231A>G
ENST00000302539.9:c.2479-231A>G	ENSP00000303960.4:n.2479-231A>G
ENST00000389817.8:c.2476-231A>G MANE Select	ENSP00000374467.4:n.2476-231A>G
ENST00000642271.1:c.2473-231A>G	ENSP00000493749.1:n.2473-231A>G
ENST00000642579.1:c.560-231A>G
ENST00000642611.1:n.2430-231A>G
ENST00000642902.1:c.2311-231A>G
ENST00000643260.1:c.2476-231A>G	ENSP00000494450.1:n.2476-231A>G
ENST00000643562.1:c.*452-231A>G	ENSP00000496124.1:n.*452-231A>G
ENST00000643925.1:c.416A>G
ENST00000644447.1:c.832-231A>G	ENSP00000496282.1:n.832-231A>G
ENST00000644472.1:c.*837-231A>G	ENSP00000495378.1:n.*837-231A>G
ENST00000644484.1:c.*685-231A>G	ENSP00000493558.1:n.*685-231A>G
ENST00000644542.1:c.*2181-231A>G	ENSP00000495532.1:n.*2181-231A>G
ENST00000644675.1:c.*648-231A>G	ENSP00000494567.1:n.*648-231A>G
ENST00000644757.1:c.*781-231A>G	ENSP00000495085.1:n.*781-231A>G
ENST00000644772.1:c.2542-231A>G	ENSP00000494321.1:n.2542-231A>G
ENST00000645076.1:c.1728-231A>G
ENST00000645744.1:c.*840-231A>G	ENSP00000494564.1:n.*840-231A>G
ENST00000645760.1:c.2751-231A>G
ENST00000645884.1:c.2476-231A>G	ENSP00000495516.1:n.2476-231A>G
ENST00000646003.1:c.*532-231A>G	ENSP00000495259.1:n.*532-231A>G
ENST00000646207.1:c.*840-231A>G	ENSP00000495025.1:n.*840-231A>G
ENST00000646276.1:c.*749-231A>G	ENSP00000496070.1:n.*749-231A>G
ENST00000646592.1:c.1702-231A>G
ENST00000646902.1:c.2473-231A>G	ENSP00000494101.1:n.2473-231A>G
ENST00000646993.1:c.*872-231A>G	ENSP00000493720.1:n.*872-231A>G
ENST00000647013.1:c.2482-231A>G	ENSP00000496741.1:n.2482-231A>G
ENST00000647015.1:c.2227-231A>G	ENSP00000495389.1:n.2227-231A>G
ENST00000647086.1:c.*2206-231A>G	ENSP00000493677.1:n.*2206-231A>G
ENST00000647158.1:c.*617-231A>G	ENSP00000495744.1:n.*617-231A>G
ENST00000302539.8:c.2479-231A>G	ENSP00000303960.4:n.2479-231A>G
ENST00000389817.7:c.2476-231A>G	ENSP00000374467.3:n.2476-231A>G
ENST00000526921.5:n.160-231A>G
ENST00000527905.5:c.2446-231A>G	ENSP00000431653.1:n.2446-231A>G
ENST00000529967.5:n.145-231A>G
ENST00000530147.5:n.59-231A>G
ENST00000531911.1:n.590-231A>G
NM_000352.4:c.2476-231A>G	NP_000343.2:n.2476-231A>G
NM_001287174.1:c.2479-231A>G	NP_001274103.1:n.2479-231A>G
XM_011520331.1:c.2476-231A>G	XP_011518633.1:n.2476-231A>G
XM_011520332.1:c.2479-231A>G	XP_011518634.1:n.2479-231A>G
XM_011520333.1:c.976-231A>G	XP_011518635.1:n.976-231A>G
XM_011520334.1:c.2479-231A>G	XP_011518636.1:n.2479-231A>G
XR_930890.1:n.2542-231A>G
XR_930891.1:n.2542-231A>G
XR_930892.1:n.2542-231A>G
XR_930893.1:n.2539-231A>G
NM_001351295.1:c.2542-231A>G	NP_001338224.1:n.2542-231A>G
NM_001351296.1:c.2476-231A>G	NP_001338225.1:n.2476-231A>G
NM_001351297.1:c.2473-231A>G	NP_001338226.1:n.2473-231A>G
NR_147094.1:n.2545-231A>G
XM_017018197.2:c.2545-231A>G	XP_016873686.1:n.2545-231A>G
XM_017018199.1:c.2542-231A>G	XP_016873688.1:n.2542-231A>G
XM_017018201.2:c.2545-231A>G	XP_016873690.1:n.2545-231A>G
XM_017018202.1:c.1042-231A>G	XP_016873691.1:n.1042-231A>G
XM_017018204.1:c.433-231A>G	XP_016873693.1:n.433-231A>G
XM_024448668.1:c.844-231A>G	XP_024304436.1:n.844-231A>G
XR_001747945.2:n.2617-231A>G
XR_001747946.2:n.2548-231A>G
XR_002957189.1:n.2617-231A>G
NM_000352.6:c.2476-231A>G MANE Select	NP_000343.2:n.2476-231A>G
NM_001287174.2:c.2479-231A>G	NP_001274103.1:n.2479-231A>G
NM_001351295.2:c.2542-231A>G	NP_001338224.1:n.2542-231A>G
NM_001351296.2:c.2476-231A>G	NP_001338225.1:n.2476-231A>G
NM_001351297.2:c.2473-231A>G	NP_001338226.1:n.2473-231A>G
NR_147094.2:n.2545-231A>G
NM_001287174.3:c.2479-231A>G	NP_001274103.1:n.2479-231A>G