Canonical Allele Identifier: CA379781804

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17415252T>G (hg19) ; chr11:g.17393705T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17393705T>G , CM000673.2:g.17393705T>G	GRCh38
NC_000011.9:g.17415252T>G , CM000673.1:g.17415252T>G	GRCh37
NC_000011.8:g.17371828T>G	NCBI36
NG_008867.1:g.88198A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.4201A>C
ENST00000526037.6:n.535A>C
ENST00000528374.2:c.1191A>C
ENST00000529967.6:n.2939A>C
ENST00000532220.2:n.3833A>C
ENST00000642611.2:n.5933A>C
ENST00000644057.2:n.1176A>C
ENST00000645004.2:n.2099A>C
ENST00000682051.1:n.4762A>C
ENST00000682110.1:n.4815A>C
ENST00000682140.1:c.*386A>C	ENSP00000507829.1:n.*386A>C
ENST00000682185.1:n.5905A>C
ENST00000682204.1:c.*2738A>C	ENSP00000507094.1:n.*2738A>C
ENST00000682215.1:n.5182A>C
ENST00000682288.1:c.*3031A>C	ENSP00000507506.1:n.*3031A>C
ENST00000682442.1:n.5035A>C
ENST00000682528.1:n.4892A>C
ENST00000682673.1:n.4759A>C
ENST00000682805.1:n.5220A>C
ENST00000682965.1:c.*1022A>C	ENSP00000508229.1:n.*1022A>C
ENST00000683093.1:n.5795A>C
ENST00000683136.1:c.4483A>C	ENSP00000507768.1:p.Thr1495Pro
ENST00000683153.1:n.4857A>C
ENST00000683365.1:n.4917A>C
ENST00000683377.1:n.4711A>C
ENST00000683456.1:c.*1737A>C	ENSP00000508318.1:n.*1737A>C
ENST00000683522.1:n.4897A>C
ENST00000683562.1:c.*2665A>C	ENSP00000508265.1:n.*2665A>C
ENST00000683693.1:n.6276A>C
ENST00000683725.1:c.*65A>C	ENSP00000507496.1:n.*65A>C
ENST00000684010.1:n.4810A>C
ENST00000684014.1:n.787A>C
ENST00000684157.1:n.5800A>C
ENST00000684253.1:n.4718A>C
ENST00000684288.1:c.*2772A>C	ENSP00000507143.1:n.*2772A>C
ENST00000684313.1:n.4247A>C
ENST00000684332.1:n.4888A>C
ENST00000684371.1:n.4921A>C
ENST00000684404.1:n.5843A>C
ENST00000684442.1:n.5039A>C
ENST00000684555.1:c.*2812A>C	ENSP00000507705.1:n.*2812A>C
ENST00000684571.1:c.4441A>C	ENSP00000506935.1:p.Thr1481Pro
ENST00000684593.1:c.*4305A>C	ENSP00000507005.1:n.*4305A>C
ENST00000684711.1:c.*2996A>C	ENSP00000506841.1:n.*2996A>C
ENST00000302539.9:c.4603A>C	ENSP00000303960.4:p.Thr1535Pro
ENST00000389817.8:c.4600A>C MANE Select	ENSP00000374467.4:p.Thr1534Pro
ENST00000642271.1:c.4597A>C	ENSP00000493749.1:p.Thr1533Pro
ENST00000642579.1:c.2654A>C
ENST00000642611.1:n.5818A>C
ENST00000642902.1:c.4382A>C
ENST00000643260.1:c.4600A>C	ENSP00000494450.1:p.Thr1534Pro
ENST00000643562.1:c.*2722A>C	ENSP00000496124.1:n.*2722A>C
ENST00000643925.1:c.3185+561A>C
ENST00000644057.1:n.759A>C
ENST00000644484.1:c.*3986A>C	ENSP00000493558.1:n.*3986A>C
ENST00000644675.1:c.*2772A>C	ENSP00000494567.1:n.*2772A>C
ENST00000644757.1:c.*3203-725A>C	ENSP00000495085.1:n.*3203-725A>C
ENST00000644772.1:c.4666A>C	ENSP00000494321.1:p.Thr1556Pro
ENST00000645004.1:n.2293A>C
ENST00000645076.1:c.3695A>C
ENST00000645417.1:c.1788A>C
ENST00000645744.1:c.*4285A>C	ENSP00000494564.1:n.*4285A>C
ENST00000645760.1:c.5021A>C
ENST00000645884.1:c.*1883A>C	ENSP00000495516.1:n.*1883A>C
ENST00000646003.1:c.*2622A>C	ENSP00000495259.1:n.*2622A>C
ENST00000646207.1:c.*3437A>C	ENSP00000495025.1:n.*3437A>C
ENST00000646276.1:c.*4004A>C	ENSP00000496070.1:n.*4004A>C
ENST00000646592.1:c.3906A>C
ENST00000646902.1:c.4567A>C	ENSP00000494101.1:p.Thr1523Pro
ENST00000646993.1:c.*3038A>C	ENSP00000493720.1:n.*3038A>C
ENST00000647015.1:c.4351A>C	ENSP00000495389.1:p.Thr1451Pro
ENST00000647086.1:c.*4186A>C	ENSP00000493677.1:n.*4186A>C
ENST00000647158.1:c.*2887A>C	ENSP00000495744.1:n.*2887A>C
ENST00000302539.8:c.4603A>C	ENSP00000303960.4:p.Thr1535Pro
ENST00000389817.7:c.4600A>C	ENSP00000374467.3:p.Thr1534Pro
ENST00000525022.1:n.495A>C
ENST00000526037.5:n.360A>C
ENST00000526168.5:c.388A>C
ENST00000531642.5:c.631A>C
NM_000352.4:c.4600A>C	NP_000343.2:p.Thr1534Pro
NM_001287174.1:c.4603A>C	NP_001274103.1:p.Thr1535Pro
XM_011520331.1:c.4600A>C	XP_011518633.1:p.Thr1534Pro
XM_011520333.1:c.3100A>C	XP_011518635.1:p.Thr1034Pro
XR_930890.1:n.4562A>C
NM_001351295.1:c.4666A>C	NP_001338224.1:p.Thr1556Pro
NM_001351296.1:c.4600A>C	NP_001338225.1:p.Thr1534Pro
NM_001351297.1:c.4597A>C	NP_001338226.1:p.Thr1533Pro
NR_147094.1:n.4895A>C
XM_017018197.2:c.4669A>C	XP_016873686.1:p.Thr1557Pro
XM_017018199.1:c.4666A>C	XP_016873688.1:p.Thr1556Pro
XM_017018202.1:c.3166A>C	XP_016873691.1:p.Thr1056Pro
XM_017018204.1:c.2557A>C	XP_016873693.1:p.Thr853Pro
XM_024448668.1:c.2968A>C	XP_024304436.1:p.Thr990Pro
XR_001747945.2:n.4637A>C
XR_001747946.2:n.4568A>C
XR_002957189.1:n.6351A>C
NM_000352.6:c.4600A>C MANE Select	NP_000343.2:p.Thr1534Pro
NM_001287174.2:c.4603A>C	NP_001274103.1:p.Thr1535Pro
NM_001351295.2:c.4666A>C	NP_001338224.1:p.Thr1556Pro
NM_001351296.2:c.4600A>C	NP_001338225.1:p.Thr1534Pro
NM_001351297.2:c.4597A>C	NP_001338226.1:p.Thr1533Pro
NR_147094.2:n.4895A>C
NM_001287174.3:c.4603A>C	NP_001274103.1:p.Thr1535Pro