Canonical Allele Identifier: CA379790668

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17396981-G-T
• MyVariant Identifiers: chr11:g.17418528G>T (hg19) ; chr11:g.17396981G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17396981G>T , CM000673.2:g.17396981G>T	GRCh38
NC_000011.9:g.17418528G>T , CM000673.1:g.17418528G>T	GRCh37
NC_000011.8:g.17375104G>T	NCBI36
NG_008867.1:g.84922C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3655C>A
ENST00000528374.2:c.645C>A
ENST00000529967.6:n.2393C>A
ENST00000532220.2:n.2302C>A
ENST00000642611.2:n.4269C>A
ENST00000644057.2:n.497C>A
ENST00000645004.2:n.1553C>A
ENST00000682051.1:n.4216C>A
ENST00000682110.1:n.4269C>A
ENST00000682140.1:c.3985+212C>A	ENSP00000507829.1:n.3985+212C>A
ENST00000682185.1:n.5359C>A
ENST00000682204.1:c.*2192C>A	ENSP00000507094.1:n.*2192C>A
ENST00000682215.1:n.4636C>A
ENST00000682288.1:c.*2485C>A	ENSP00000507506.1:n.*2485C>A
ENST00000682442.1:n.4489C>A
ENST00000682528.1:n.4346C>A
ENST00000682673.1:n.4213C>A
ENST00000682805.1:n.4636C>A
ENST00000682965.1:c.*476C>A	ENSP00000508229.1:n.*476C>A
ENST00000683093.1:n.4368C>A
ENST00000683136.1:c.3937C>A	ENSP00000507768.1:p.Arg1313Ser
ENST00000683153.1:n.4311C>A
ENST00000683365.1:n.4371C>A
ENST00000683377.1:n.4269C>A
ENST00000683456.1:c.*1191C>A	ENSP00000508318.1:n.*1191C>A
ENST00000683522.1:n.4269C>A
ENST00000683562.1:c.*2223C>A	ENSP00000508265.1:n.*2223C>A
ENST00000683693.1:n.4716C>A
ENST00000683725.1:c.4054C>A	ENSP00000507496.1:p.Arg1352Ser
ENST00000684010.1:n.4264C>A
ENST00000684157.1:n.4269C>A
ENST00000684253.1:n.4172C>A
ENST00000684288.1:c.*2226C>A	ENSP00000507143.1:n.*2226C>A
ENST00000684313.1:n.3701C>A
ENST00000684332.1:n.4342C>A
ENST00000684371.1:n.4375C>A
ENST00000684404.1:n.4312C>A
ENST00000684442.1:n.4493C>A
ENST00000684555.1:c.*2266C>A	ENSP00000507705.1:n.*2266C>A
ENST00000684571.1:c.3895C>A	ENSP00000506935.1:p.Arg1299Ser
ENST00000684593.1:c.*3759C>A	ENSP00000507005.1:n.*3759C>A
ENST00000684711.1:c.*2450C>A	ENSP00000506841.1:n.*2450C>A
ENST00000302539.9:c.4057C>A	ENSP00000303960.4:p.Arg1353Ser
ENST00000389817.8:c.4054C>A MANE Select	ENSP00000374467.4:p.Arg1352Ser
ENST00000642271.1:c.4051C>A	ENSP00000493749.1:p.Arg1351Ser
ENST00000642579.1:c.2108C>A
ENST00000642611.1:n.4154C>A
ENST00000642902.1:c.3836C>A
ENST00000643260.1:c.4054C>A	ENSP00000494450.1:p.Arg1352Ser
ENST00000643562.1:c.*2176C>A	ENSP00000496124.1:n.*2176C>A
ENST00000643925.1:c.2694C>A
ENST00000644057.1:n.131C>A
ENST00000644484.1:c.*2455C>A	ENSP00000493558.1:n.*2455C>A
ENST00000644675.1:c.*2226C>A	ENSP00000494567.1:n.*2226C>A
ENST00000644757.1:c.*2485C>A	ENSP00000495085.1:n.*2485C>A
ENST00000644772.1:c.4120C>A	ENSP00000494321.1:p.Arg1374Ser
ENST00000645004.1:n.1709C>A
ENST00000645076.1:c.3253C>A
ENST00000645417.1:c.1242C>A
ENST00000645744.1:c.*2834C>A	ENSP00000494564.1:n.*2834C>A
ENST00000645760.1:c.4475C>A
ENST00000645884.1:c.*1337C>A	ENSP00000495516.1:n.*1337C>A
ENST00000646003.1:c.*2156C>A	ENSP00000495259.1:n.*2156C>A
ENST00000646207.1:c.*2891C>A	ENSP00000495025.1:n.*2891C>A
ENST00000646276.1:c.*2473C>A	ENSP00000496070.1:n.*2473C>A
ENST00000646592.1:c.3360C>A
ENST00000646902.1:c.4021C>A	ENSP00000494101.1:p.Arg1341Ser
ENST00000646993.1:c.*2596C>A	ENSP00000493720.1:n.*2596C>A
ENST00000647013.1:c.4060C>A	ENSP00000496741.1:n.4060C>A
ENST00000647015.1:c.3805C>A	ENSP00000495389.1:p.Arg1269Ser
ENST00000647086.1:c.*3640C>A	ENSP00000493677.1:n.*3640C>A
ENST00000647158.1:c.*2341C>A	ENSP00000495744.1:n.*2341C>A
ENST00000302539.8:c.4057C>A	ENSP00000303960.4:p.Arg1353Ser
ENST00000389817.7:c.4054C>A	ENSP00000374467.3:p.Arg1352Ser
ENST00000527905.5:c.*1076C>A	ENSP00000431653.1:n.*1076C>A
ENST00000528374.1:c.536C>A
ENST00000531137.1:n.619C>A
ENST00000531891.1:c.392C>A
ENST00000532220.1:n.528C>A
NM_000352.4:c.4054C>A	NP_000343.2:p.Arg1352Ser
NM_001287174.1:c.4057C>A	NP_001274103.1:p.Arg1353Ser
XM_011520331.1:c.4054C>A	XP_011518633.1:p.Arg1352Ser
XM_011520332.1:c.4057C>A	XP_011518634.1:p.Arg1353Ser
XM_011520333.1:c.2554C>A	XP_011518635.1:p.Arg852Ser
XR_930890.1:n.4120C>A
NM_001351295.1:c.4120C>A	NP_001338224.1:p.Arg1374Ser
NM_001351296.1:c.4054C>A	NP_001338225.1:p.Arg1352Ser
NM_001351297.1:c.4051C>A	NP_001338226.1:p.Arg1351Ser
NR_147094.1:n.4349C>A
XM_017018197.2:c.4123C>A	XP_016873686.1:p.Arg1375Ser
XM_017018199.1:c.4120C>A	XP_016873688.1:p.Arg1374Ser
XM_017018201.2:c.4123C>A	XP_016873690.1:p.Arg1375Ser
XM_017018202.1:c.2620C>A	XP_016873691.1:p.Arg874Ser
XM_017018204.1:c.2011C>A	XP_016873693.1:p.Arg671Ser
XM_024448668.1:c.2422C>A	XP_024304436.1:p.Arg808Ser
XR_001747945.2:n.4195C>A
XR_001747946.2:n.4126C>A
XR_002957189.1:n.4791C>A
NM_000352.6:c.4054C>A MANE Select	NP_000343.2:p.Arg1352Ser
NM_001287174.2:c.4057C>A	NP_001274103.1:p.Arg1353Ser
NM_001351295.2:c.4120C>A	NP_001338224.1:p.Arg1374Ser
NM_001351296.2:c.4054C>A	NP_001338225.1:p.Arg1352Ser
NM_001351297.2:c.4051C>A	NP_001338226.1:p.Arg1351Ser
NR_147094.2:n.4349C>A
NM_001287174.3:c.4057C>A	NP_001274103.1:p.Arg1353Ser