Canonical Allele Identifier: CA379783496

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17415911G>A (hg19) ; chr11:g.17394364G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17394364G>A , CM000673.2:g.17394364G>A	GRCh38
NC_000011.9:g.17415911G>A , CM000673.1:g.17415911G>A	GRCh37
NC_000011.8:g.17372487G>A	NCBI36
NG_008867.1:g.87539C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000524561.2:n.4048C>T
ENST00000526037.6:n.382C>T
ENST00000528374.2:c.1038C>T
ENST00000529967.6:n.2786C>T
ENST00000532220.2:n.3680C>T
ENST00000642611.2:n.5780C>T
ENST00000644057.2:n.1023C>T
ENST00000645004.2:n.1946C>T
ENST00000682051.1:n.4609C>T
ENST00000682110.1:n.4662C>T
ENST00000682140.1:c.*233C>T	ENSP00000507829.1:n.*233C>T
ENST00000682185.1:n.5752C>T
ENST00000682204.1:c.*2585C>T	ENSP00000507094.1:n.*2585C>T
ENST00000682215.1:n.5029C>T
ENST00000682288.1:c.*2878C>T	ENSP00000507506.1:n.*2878C>T
ENST00000682442.1:n.4882C>T
ENST00000682528.1:n.4739C>T
ENST00000682673.1:n.4606C>T
ENST00000682805.1:n.5067C>T
ENST00000682965.1:c.*869C>T	ENSP00000508229.1:n.*869C>T
ENST00000683093.1:n.5642C>T
ENST00000683136.1:c.4330C>T	ENSP00000507768.1:p.Gln1444Ter
ENST00000683153.1:n.4704C>T
ENST00000683365.1:n.4764C>T
ENST00000683377.1:n.4558C>T
ENST00000683456.1:c.*1584C>T	ENSP00000508318.1:n.*1584C>T
ENST00000683522.1:n.4744C>T
ENST00000683562.1:c.*2512C>T	ENSP00000508265.1:n.*2512C>T
ENST00000683693.1:n.6123C>T
ENST00000683725.1:c.4343C>T	ENSP00000507496.1:p.Pro1448Leu
ENST00000684010.1:n.4657C>T
ENST00000684014.1:n.634C>T
ENST00000684157.1:n.5647C>T
ENST00000684253.1:n.4565C>T
ENST00000684288.1:c.*2619C>T	ENSP00000507143.1:n.*2619C>T
ENST00000684313.1:n.4094C>T
ENST00000684332.1:n.4735C>T
ENST00000684371.1:n.4768C>T
ENST00000684404.1:n.5690C>T
ENST00000684442.1:n.4886C>T
ENST00000684555.1:c.*2659C>T	ENSP00000507705.1:n.*2659C>T
ENST00000684571.1:c.4288C>T	ENSP00000506935.1:p.Gln1430Ter
ENST00000684593.1:c.*4152C>T	ENSP00000507005.1:n.*4152C>T
ENST00000684711.1:c.*2843C>T	ENSP00000506841.1:n.*2843C>T
ENST00000302539.9:c.4450C>T	ENSP00000303960.4:p.Gln1484Ter
ENST00000389817.8:c.4447C>T MANE Select	ENSP00000374467.4:p.Gln1483Ter
ENST00000642271.1:c.4444C>T	ENSP00000493749.1:p.Gln1482Ter
ENST00000642579.1:c.2501C>T
ENST00000642611.1:n.5665C>T
ENST00000642902.1:c.4229C>T
ENST00000643260.1:c.4447C>T	ENSP00000494450.1:p.Gln1483Ter
ENST00000643562.1:c.*2569C>T	ENSP00000496124.1:n.*2569C>T
ENST00000643925.1:c.3087C>T
ENST00000644057.1:n.606C>T
ENST00000644484.1:c.*3833C>T	ENSP00000493558.1:n.*3833C>T
ENST00000644675.1:c.*2619C>T	ENSP00000494567.1:n.*2619C>T
ENST00000644757.1:c.*3203-1384C>T	ENSP00000495085.1:n.*3203-1384C>T
ENST00000644772.1:c.4513C>T	ENSP00000494321.1:p.Gln1505Ter
ENST00000645004.1:n.2140C>T
ENST00000645076.1:c.3542C>T
ENST00000645417.1:c.1635C>T
ENST00000645744.1:c.*4132C>T	ENSP00000494564.1:n.*4132C>T
ENST00000645760.1:c.4868C>T
ENST00000645884.1:c.*1730C>T	ENSP00000495516.1:n.*1730C>T
ENST00000646003.1:c.*2469C>T	ENSP00000495259.1:n.*2469C>T
ENST00000646207.1:c.*3284C>T	ENSP00000495025.1:n.*3284C>T
ENST00000646276.1:c.*3851C>T	ENSP00000496070.1:n.*3851C>T
ENST00000646592.1:c.3753C>T
ENST00000646902.1:c.4414C>T	ENSP00000494101.1:p.Gln1472Ter
ENST00000646993.1:c.*2885C>T	ENSP00000493720.1:n.*2885C>T
ENST00000647013.1:c.4453C>T	ENSP00000496741.1:n.4453C>T
ENST00000647015.1:c.4198C>T	ENSP00000495389.1:p.Gln1400Ter
ENST00000647086.1:c.*4033C>T	ENSP00000493677.1:n.*4033C>T
ENST00000647158.1:c.*2734C>T	ENSP00000495744.1:n.*2734C>T
ENST00000302539.8:c.4450C>T	ENSP00000303960.4:p.Gln1484Ter
ENST00000389817.7:c.4447C>T	ENSP00000374467.3:p.Gln1483Ter
ENST00000525022.1:n.342C>T
ENST00000526037.5:n.207C>T
ENST00000526168.5:c.235C>T
ENST00000531642.5:c.478C>T
NM_000352.4:c.4447C>T	NP_000343.2:p.Gln1483Ter
NM_001287174.1:c.4450C>T	NP_001274103.1:p.Gln1484Ter
XM_011520331.1:c.4447C>T	XP_011518633.1:p.Gln1483Ter
XM_011520332.1:c.4346C>T	XP_011518634.1:p.Pro1449Leu
XM_011520333.1:c.2947C>T	XP_011518635.1:p.Gln983Ter
XR_930890.1:n.4409C>T
NM_001351295.1:c.4513C>T	NP_001338224.1:p.Gln1505Ter
NM_001351296.1:c.4447C>T	NP_001338225.1:p.Gln1483Ter
NM_001351297.1:c.4444C>T	NP_001338226.1:p.Gln1482Ter
NR_147094.1:n.4742C>T
XM_017018197.2:c.4516C>T	XP_016873686.1:p.Gln1506Ter
XM_017018199.1:c.4513C>T	XP_016873688.1:p.Gln1505Ter
XM_017018201.2:c.4412C>T	XP_016873690.1:p.Pro1471Leu
XM_017018202.1:c.3013C>T	XP_016873691.1:p.Gln1005Ter
XM_017018204.1:c.2404C>T	XP_016873693.1:p.Gln802Ter
XM_024448668.1:c.2815C>T	XP_024304436.1:p.Gln939Ter
XR_001747945.2:n.4484C>T
XR_001747946.2:n.4415C>T
XR_002957189.1:n.6198C>T
NM_000352.6:c.4447C>T MANE Select	NP_000343.2:p.Gln1483Ter
NM_001287174.2:c.4450C>T	NP_001274103.1:p.Gln1484Ter
NM_001351295.2:c.4513C>T	NP_001338224.1:p.Gln1505Ter
NM_001351296.2:c.4447C>T	NP_001338225.1:p.Gln1483Ter
NM_001351297.2:c.4444C>T	NP_001338226.1:p.Gln1482Ter
NR_147094.2:n.4742C>T
NM_001287174.3:c.4450C>T	NP_001274103.1:p.Gln1484Ter