Canonical Allele Identifier: CA379791202

Gene: ABCC8

Linked Data

• dbSNP Id: rs1281036350
• gnomAD v2: 11-17418579-G-A
• gnomAD v4: 11-17397032-G-A
• MyVariant Identifiers: chr11:g.17418579G>A (hg19) ; chr11:g.17397032G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17397032G>A , CM000673.2:g.17397032G>A	GRCh38
NC_000011.9:g.17418579G>A , CM000673.1:g.17418579G>A	GRCh37
NC_000011.8:g.17375155G>A	NCBI36
NG_008867.1:g.84871C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3604C>T
ENST00000528374.2:c.594C>T
ENST00000529967.6:n.2342C>T
ENST00000532220.2:n.2251C>T
ENST00000642611.2:n.4218C>T
ENST00000644057.2:n.446C>T
ENST00000645004.2:n.1502C>T
ENST00000682051.1:n.4165C>T
ENST00000682110.1:n.4218C>T
ENST00000682140.1:c.3985+161C>T	ENSP00000507829.1:n.3985+161C>T
ENST00000682185.1:n.5308C>T
ENST00000682204.1:c.*2141C>T	ENSP00000507094.1:n.*2141C>T
ENST00000682215.1:n.4585C>T
ENST00000682288.1:c.*2434C>T	ENSP00000507506.1:n.*2434C>T
ENST00000682442.1:n.4438C>T
ENST00000682528.1:n.4295C>T
ENST00000682673.1:n.4162C>T
ENST00000682805.1:n.4585C>T
ENST00000682965.1:c.*425C>T	ENSP00000508229.1:n.*425C>T
ENST00000683093.1:n.4317C>T
ENST00000683136.1:c.3886C>T	ENSP00000507768.1:p.Pro1296Ser
ENST00000683153.1:n.4260C>T
ENST00000683365.1:n.4320C>T
ENST00000683377.1:n.4218C>T
ENST00000683456.1:c.*1140C>T	ENSP00000508318.1:n.*1140C>T
ENST00000683522.1:n.4218C>T
ENST00000683562.1:c.*2172C>T	ENSP00000508265.1:n.*2172C>T
ENST00000683693.1:n.4665C>T
ENST00000683725.1:c.4003C>T	ENSP00000507496.1:p.Pro1335Ser
ENST00000684010.1:n.4213C>T
ENST00000684157.1:n.4218C>T
ENST00000684253.1:n.4121C>T
ENST00000684288.1:c.*2175C>T	ENSP00000507143.1:n.*2175C>T
ENST00000684313.1:n.3650C>T
ENST00000684332.1:n.4291C>T
ENST00000684371.1:n.4324C>T
ENST00000684404.1:n.4261C>T
ENST00000684442.1:n.4442C>T
ENST00000684555.1:c.*2215C>T	ENSP00000507705.1:n.*2215C>T
ENST00000684571.1:c.3844C>T	ENSP00000506935.1:p.Pro1282Ser
ENST00000684593.1:c.*3708C>T	ENSP00000507005.1:n.*3708C>T
ENST00000684711.1:c.*2399C>T	ENSP00000506841.1:n.*2399C>T
ENST00000302539.9:c.4006C>T	ENSP00000303960.4:p.Pro1336Ser
ENST00000389817.8:c.4003C>T MANE Select	ENSP00000374467.4:p.Pro1335Ser
ENST00000642271.1:c.4000C>T	ENSP00000493749.1:p.Pro1334Ser
ENST00000642579.1:c.2073-16C>T
ENST00000642611.1:n.4103C>T
ENST00000642902.1:c.3785C>T
ENST00000643260.1:c.4003C>T	ENSP00000494450.1:p.Pro1335Ser
ENST00000643562.1:c.*2125C>T	ENSP00000496124.1:n.*2125C>T
ENST00000643925.1:c.2643C>T
ENST00000644057.1:n.80C>T
ENST00000644484.1:c.*2404C>T	ENSP00000493558.1:n.*2404C>T
ENST00000644675.1:c.*2175C>T	ENSP00000494567.1:n.*2175C>T
ENST00000644757.1:c.*2434C>T	ENSP00000495085.1:n.*2434C>T
ENST00000644772.1:c.4069C>T	ENSP00000494321.1:p.Pro1357Ser
ENST00000645004.1:n.1658C>T
ENST00000645076.1:c.3202C>T
ENST00000645417.1:c.1191C>T
ENST00000645744.1:c.*2783C>T	ENSP00000494564.1:n.*2783C>T
ENST00000645760.1:c.4424C>T
ENST00000645884.1:c.*1286C>T	ENSP00000495516.1:n.*1286C>T
ENST00000646003.1:c.*2105C>T	ENSP00000495259.1:n.*2105C>T
ENST00000646207.1:c.*2840C>T	ENSP00000495025.1:n.*2840C>T
ENST00000646276.1:c.*2422C>T	ENSP00000496070.1:n.*2422C>T
ENST00000646592.1:c.3309C>T
ENST00000646902.1:c.3986-16C>T	ENSP00000494101.1:n.3986-16C>T
ENST00000646993.1:c.*2545C>T	ENSP00000493720.1:n.*2545C>T
ENST00000647013.1:c.4009C>T	ENSP00000496741.1:n.4009C>T
ENST00000647015.1:c.3754C>T	ENSP00000495389.1:p.Pro1252Ser
ENST00000647086.1:c.*3605-16C>T	ENSP00000493677.1:n.*3605-16C>T
ENST00000647158.1:c.*2290C>T	ENSP00000495744.1:n.*2290C>T
ENST00000302539.8:c.4006C>T	ENSP00000303960.4:p.Pro1336Ser
ENST00000389817.7:c.4003C>T	ENSP00000374467.3:p.Pro1335Ser
ENST00000527905.5:c.*1025C>T	ENSP00000431653.1:n.*1025C>T
ENST00000528374.1:c.485C>T
ENST00000531137.1:n.568C>T
ENST00000531891.1:c.357-16C>T
ENST00000532220.1:n.477C>T
NM_000352.4:c.4003C>T	NP_000343.2:p.Pro1335Ser
NM_001287174.1:c.4006C>T	NP_001274103.1:p.Pro1336Ser
XM_011520331.1:c.4003C>T	XP_011518633.1:p.Pro1335Ser
XM_011520332.1:c.4006C>T	XP_011518634.1:p.Pro1336Ser
XM_011520333.1:c.2503C>T	XP_011518635.1:p.Pro835Ser
XR_930890.1:n.4069C>T
NM_001351295.1:c.4069C>T	NP_001338224.1:p.Pro1357Ser
NM_001351296.1:c.4003C>T	NP_001338225.1:p.Pro1335Ser
NM_001351297.1:c.4000C>T	NP_001338226.1:p.Pro1334Ser
NR_147094.1:n.4298C>T
XM_017018197.2:c.4072C>T	XP_016873686.1:p.Pro1358Ser
XM_017018199.1:c.4069C>T	XP_016873688.1:p.Pro1357Ser
XM_017018201.2:c.4072C>T	XP_016873690.1:p.Pro1358Ser
XM_017018202.1:c.2569C>T	XP_016873691.1:p.Pro857Ser
XM_017018204.1:c.1960C>T	XP_016873693.1:p.Pro654Ser
XM_024448668.1:c.2371C>T	XP_024304436.1:p.Pro791Ser
XR_001747945.2:n.4144C>T
XR_001747946.2:n.4075C>T
XR_002957189.1:n.4740C>T
NM_000352.6:c.4003C>T MANE Select	NP_000343.2:p.Pro1335Ser
NM_001287174.2:c.4006C>T	NP_001274103.1:p.Pro1336Ser
NM_001351295.2:c.4069C>T	NP_001338224.1:p.Pro1357Ser
NM_001351296.2:c.4003C>T	NP_001338225.1:p.Pro1335Ser
NM_001351297.2:c.4000C>T	NP_001338226.1:p.Pro1334Ser
NR_147094.2:n.4298C>T
NM_001287174.3:c.4006C>T	NP_001274103.1:p.Pro1336Ser