Canonical Allele Identifier: CA1955131360

Gene: ABCC8

Linked Data

• dbSNP Id: rs1223517785

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17412772C>G , CM000673.2:g.17412772C>G	GRCh38
NC_000011.9:g.17434319C>G , CM000673.1:g.17434319C>G	GRCh37
NC_000011.8:g.17390895C>G	NCBI36
NG_008867.1:g.69131G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2145-26G>C
ENST00000529967.6:n.735-26G>C
ENST00000642611.2:n.2545-26G>C
ENST00000682051.1:n.2492-26G>C
ENST00000682110.1:n.2545-26G>C
ENST00000682140.1:c.2473-26G>C	ENSP00000507829.1:n.2473-26G>C
ENST00000682185.1:n.3781-26G>C
ENST00000682204.1:c.*614-26G>C	ENSP00000507094.1:n.*614-26G>C
ENST00000682215.1:n.2542-26G>C
ENST00000682288.1:c.*907-26G>C	ENSP00000507506.1:n.*907-26G>C
ENST00000682442.1:n.2666-26G>C
ENST00000682528.1:n.2542-26G>C
ENST00000682673.1:n.2489-26G>C
ENST00000682805.1:n.2542-26G>C
ENST00000682965.1:c.2473-26G>C	ENSP00000508229.1:n.2473-26G>C
ENST00000683093.1:n.2644-26G>C
ENST00000683136.1:c.2473-26G>C	ENSP00000507768.1:n.2473-26G>C
ENST00000683153.1:n.2701-26G>C
ENST00000683365.1:n.2647-26G>C
ENST00000683377.1:n.2545-26G>C
ENST00000683456.1:c.2476-26G>C	ENSP00000508318.1:n.2476-26G>C
ENST00000683522.1:n.2545-26G>C
ENST00000683562.1:c.*645-26G>C	ENSP00000508265.1:n.*645-26G>C
ENST00000683693.1:n.2542-26G>C
ENST00000683725.1:c.2476-26G>C	ENSP00000507496.1:n.2476-26G>C
ENST00000684010.1:n.2460-26G>C
ENST00000684157.1:n.2545-26G>C
ENST00000684253.1:n.2448-26G>C
ENST00000684288.1:c.*648-26G>C	ENSP00000507143.1:n.*648-26G>C
ENST00000684313.1:n.1977-26G>C
ENST00000684332.1:n.2618-26G>C
ENST00000684371.1:n.2651-26G>C
ENST00000684404.1:n.2542-26G>C
ENST00000684442.1:n.2545-26G>C
ENST00000684555.1:c.*688-26G>C	ENSP00000507705.1:n.*688-26G>C
ENST00000684571.1:c.2317-26G>C	ENSP00000506935.1:n.2317-26G>C
ENST00000684593.1:c.*2181-26G>C	ENSP00000507005.1:n.*2181-26G>C
ENST00000684711.1:c.*872-26G>C	ENSP00000506841.1:n.*872-26G>C
ENST00000302539.9:c.2479-26G>C	ENSP00000303960.4:n.2479-26G>C
ENST00000389817.8:c.2476-26G>C MANE Select	ENSP00000374467.4:n.2476-26G>C
ENST00000642271.1:c.2473-26G>C	ENSP00000493749.1:n.2473-26G>C
ENST00000642579.1:c.560-26G>C
ENST00000642611.1:n.2430-26G>C
ENST00000642902.1:c.2311-26G>C
ENST00000643260.1:c.2476-26G>C	ENSP00000494450.1:n.2476-26G>C
ENST00000643562.1:c.*452-26G>C	ENSP00000496124.1:n.*452-26G>C
ENST00000643925.1:c.520-26G>C
ENST00000644447.1:c.832-26G>C	ENSP00000496282.1:n.832-26G>C
ENST00000644472.1:c.*837-26G>C	ENSP00000495378.1:n.*837-26G>C
ENST00000644484.1:c.*685-26G>C	ENSP00000493558.1:n.*685-26G>C
ENST00000644542.1:c.*2181-26G>C	ENSP00000495532.1:n.*2181-26G>C
ENST00000644675.1:c.*648-26G>C	ENSP00000494567.1:n.*648-26G>C
ENST00000644757.1:c.*781-26G>C	ENSP00000495085.1:n.*781-26G>C
ENST00000644772.1:c.2542-26G>C	ENSP00000494321.1:n.2542-26G>C
ENST00000645076.1:c.1728-26G>C
ENST00000645744.1:c.*840-26G>C	ENSP00000494564.1:n.*840-26G>C
ENST00000645760.1:c.2751-26G>C
ENST00000645884.1:c.2476-26G>C	ENSP00000495516.1:n.2476-26G>C
ENST00000646003.1:c.*532-26G>C	ENSP00000495259.1:n.*532-26G>C
ENST00000646207.1:c.*840-26G>C	ENSP00000495025.1:n.*840-26G>C
ENST00000646276.1:c.*749-26G>C	ENSP00000496070.1:n.*749-26G>C
ENST00000646592.1:c.1702-26G>C
ENST00000646902.1:c.2473-26G>C	ENSP00000494101.1:n.2473-26G>C
ENST00000646993.1:c.*872-26G>C	ENSP00000493720.1:n.*872-26G>C
ENST00000647013.1:c.2482-26G>C	ENSP00000496741.1:n.2482-26G>C
ENST00000647015.1:c.2227-26G>C	ENSP00000495389.1:n.2227-26G>C
ENST00000647086.1:c.*2206-26G>C	ENSP00000493677.1:n.*2206-26G>C
ENST00000647158.1:c.*617-26G>C	ENSP00000495744.1:n.*617-26G>C
ENST00000302539.8:c.2479-26G>C	ENSP00000303960.4:n.2479-26G>C
ENST00000389817.7:c.2476-26G>C	ENSP00000374467.3:n.2476-26G>C
ENST00000526921.5:n.160-26G>C
ENST00000527905.5:c.2446-26G>C	ENSP00000431653.1:n.2446-26G>C
ENST00000529967.5:n.145-26G>C
ENST00000530147.5:n.59-26G>C
ENST00000531911.1:n.590-26G>C
NM_000352.4:c.2476-26G>C	NP_000343.2:n.2476-26G>C
NM_001287174.1:c.2479-26G>C	NP_001274103.1:n.2479-26G>C
XM_011520331.1:c.2476-26G>C	XP_011518633.1:n.2476-26G>C
XM_011520332.1:c.2479-26G>C	XP_011518634.1:n.2479-26G>C
XM_011520333.1:c.976-26G>C	XP_011518635.1:n.976-26G>C
XM_011520334.1:c.2479-26G>C	XP_011518636.1:n.2479-26G>C
XR_930890.1:n.2542-26G>C
XR_930891.1:n.2542-26G>C
XR_930892.1:n.2542-26G>C
XR_930893.1:n.2539-26G>C
NM_001351295.1:c.2542-26G>C	NP_001338224.1:n.2542-26G>C
NM_001351296.1:c.2476-26G>C	NP_001338225.1:n.2476-26G>C
NM_001351297.1:c.2473-26G>C	NP_001338226.1:n.2473-26G>C
NR_147094.1:n.2545-26G>C
XM_017018197.2:c.2545-26G>C	XP_016873686.1:n.2545-26G>C
XM_017018199.1:c.2542-26G>C	XP_016873688.1:n.2542-26G>C
XM_017018201.2:c.2545-26G>C	XP_016873690.1:n.2545-26G>C
XM_017018202.1:c.1042-26G>C	XP_016873691.1:n.1042-26G>C
XM_017018204.1:c.433-26G>C	XP_016873693.1:n.433-26G>C
XM_024448668.1:c.844-26G>C	XP_024304436.1:n.844-26G>C
XR_001747945.2:n.2617-26G>C
XR_001747946.2:n.2548-26G>C
XR_002957189.1:n.2617-26G>C
NM_000352.6:c.2476-26G>C MANE Select	NP_000343.2:n.2476-26G>C
NM_001287174.2:c.2479-26G>C	NP_001274103.1:n.2479-26G>C
NM_001351295.2:c.2542-26G>C	NP_001338224.1:n.2542-26G>C
NM_001351296.2:c.2476-26G>C	NP_001338225.1:n.2476-26G>C
NM_001351297.2:c.2473-26G>C	NP_001338226.1:n.2473-26G>C
NR_147094.2:n.2545-26G>C
NM_001287174.3:c.2479-26G>C	NP_001274103.1:n.2479-26G>C