Canonical Allele Identifier: CA5902554

Gene: ABCC8

Linked Data

• ClinVar Variation Id: 1145806
• ClinVar RCV Id: RCV001484851
• dbSNP Id: rs541612031
• ExAC: 11:17417466 G / A
• gnomAD v2: 11-17417466-G-A
• gnomAD v3: 11-17395919-G-A
• gnomAD v4: 11-17395919-G-A
• MyVariant Identifiers: chr11:g.17417466G>A (hg19) ; chr11:g.17395919G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395919G>A , CM000673.2:g.17395919G>A	GRCh38
NC_000011.9:g.17417466G>A , CM000673.1:g.17417466G>A	GRCh37
NC_000011.8:g.17374042G>A	NCBI36
NG_008867.1:g.85984C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3732C>T
ENST00000528374.2:c.722C>T
ENST00000529967.6:n.2470C>T
ENST00000532220.2:n.3364C>T
ENST00000642611.2:n.5331C>T
ENST00000644057.2:n.574C>T
ENST00000645004.2:n.1630C>T
ENST00000682051.1:n.4293C>T
ENST00000682110.1:n.4346C>T
ENST00000682140.1:c.3997C>T	ENSP00000507829.1:p.Arg1333Trp
ENST00000682185.1:n.5436C>T
ENST00000682204.1:c.*2269C>T	ENSP00000507094.1:n.*2269C>T
ENST00000682215.1:n.4713C>T
ENST00000682288.1:c.*2562C>T	ENSP00000507506.1:n.*2562C>T
ENST00000682442.1:n.4566C>T
ENST00000682528.1:n.4423C>T
ENST00000682673.1:n.4290C>T
ENST00000682805.1:n.4751C>T
ENST00000682965.1:c.*553C>T	ENSP00000508229.1:n.*553C>T
ENST00000683093.1:n.5430C>T
ENST00000683136.1:c.4014C>T	ENSP00000507768.1:p.Cys1338=
ENST00000683153.1:n.4388C>T
ENST00000683365.1:n.4448C>T
ENST00000683377.1:n.4346C>T
ENST00000683456.1:c.*1268C>T	ENSP00000508318.1:n.*1268C>T
ENST00000683522.1:n.4346C>T
ENST00000683562.1:c.*2300C>T	ENSP00000508265.1:n.*2300C>T
ENST00000683693.1:n.5778C>T
ENST00000683725.1:c.4131C>T	ENSP00000507496.1:p.Cys1377=
ENST00000684010.1:n.4341C>T
ENST00000684157.1:n.5331C>T
ENST00000684253.1:n.4249C>T
ENST00000684288.1:c.*2303C>T	ENSP00000507143.1:n.*2303C>T
ENST00000684313.1:n.3778C>T
ENST00000684332.1:n.4419C>T
ENST00000684371.1:n.4452C>T
ENST00000684404.1:n.5374C>T
ENST00000684442.1:n.4570C>T
ENST00000684555.1:c.*2343C>T	ENSP00000507705.1:n.*2343C>T
ENST00000684571.1:c.3972C>T	ENSP00000506935.1:p.Cys1324=
ENST00000684593.1:c.*3836C>T	ENSP00000507005.1:n.*3836C>T
ENST00000684711.1:c.*2527C>T	ENSP00000506841.1:n.*2527C>T
ENST00000302539.9:c.4134C>T	ENSP00000303960.4:p.Cys1378=
ENST00000389817.8:c.4131C>T MANE Select	ENSP00000374467.4:p.Cys1377=
ENST00000642271.1:c.4128C>T	ENSP00000493749.1:p.Cys1376=
ENST00000642579.1:c.2185C>T
ENST00000642611.1:n.5216C>T
ENST00000642902.1:c.3913C>T
ENST00000643260.1:c.4131C>T	ENSP00000494450.1:p.Cys1377=
ENST00000643562.1:c.*2253C>T	ENSP00000496124.1:n.*2253C>T
ENST00000643925.1:c.2771C>T
ENST00000644057.1:n.208C>T
ENST00000644484.1:c.*3517C>T	ENSP00000493558.1:n.*3517C>T
ENST00000644675.1:c.*2303C>T	ENSP00000494567.1:n.*2303C>T
ENST00000644757.1:c.*3202+345C>T	ENSP00000495085.1:n.*3202+345C>T
ENST00000644772.1:c.4197C>T	ENSP00000494321.1:p.Cys1399=
ENST00000645004.1:n.1824C>T
ENST00000645076.1:c.3330C>T
ENST00000645417.1:c.1319C>T
ENST00000645744.1:c.*3896C>T	ENSP00000494564.1:n.*3896C>T
ENST00000645760.1:c.4552C>T
ENST00000645884.1:c.*1414C>T	ENSP00000495516.1:n.*1414C>T
ENST00000646003.1:c.*2233C>T	ENSP00000495259.1:n.*2233C>T
ENST00000646207.1:c.*2968C>T	ENSP00000495025.1:n.*2968C>T
ENST00000646276.1:c.*3535C>T	ENSP00000496070.1:n.*3535C>T
ENST00000646592.1:c.3437C>T
ENST00000646902.1:c.4098C>T	ENSP00000494101.1:p.Cys1366=
ENST00000646993.1:c.*2673C>T	ENSP00000493720.1:n.*2673C>T
ENST00000647013.1:c.4137C>T	ENSP00000496741.1:n.4137C>T
ENST00000647015.1:c.3882C>T	ENSP00000495389.1:p.Cys1294=
ENST00000647086.1:c.*3717C>T	ENSP00000493677.1:n.*3717C>T
ENST00000647158.1:c.*2418C>T	ENSP00000495744.1:n.*2418C>T
ENST00000302539.8:c.4134C>T	ENSP00000303960.4:p.Cys1378=
ENST00000389817.7:c.4131C>T	ENSP00000374467.3:p.Cys1377=
ENST00000532220.1:n.605C>T
NM_000352.4:c.4131C>T	NP_000343.2:p.Cys1377=
NM_001287174.1:c.4134C>T	NP_001274103.1:p.Cys1378=
XM_011520331.1:c.4131C>T	XP_011518633.1:p.Cys1377=
XM_011520332.1:c.4134C>T	XP_011518634.1:p.Cys1378=
XM_011520333.1:c.2631C>T	XP_011518635.1:p.Cys877=
XR_930890.1:n.4197C>T
NM_001351295.1:c.4197C>T	NP_001338224.1:p.Cys1399=
NM_001351296.1:c.4131C>T	NP_001338225.1:p.Cys1377=
NM_001351297.1:c.4128C>T	NP_001338226.1:p.Cys1376=
NR_147094.1:n.4426C>T
XM_017018197.2:c.4200C>T	XP_016873686.1:p.Cys1400=
XM_017018199.1:c.4197C>T	XP_016873688.1:p.Cys1399=
XM_017018201.2:c.4200C>T	XP_016873690.1:p.Cys1400=
XM_017018202.1:c.2697C>T	XP_016873691.1:p.Cys899=
XM_017018204.1:c.2088C>T	XP_016873693.1:p.Cys696=
XM_024448668.1:c.2499C>T	XP_024304436.1:p.Cys833=
XR_001747945.2:n.4272C>T
XR_001747946.2:n.4203C>T
XR_002957189.1:n.5853C>T
NM_000352.6:c.4131C>T MANE Select	NP_000343.2:p.Cys1377=
NM_001287174.2:c.4134C>T	NP_001274103.1:p.Cys1378=
NM_001351295.2:c.4197C>T	NP_001338224.1:p.Cys1399=
NM_001351296.2:c.4131C>T	NP_001338225.1:p.Cys1377=
NM_001351297.2:c.4128C>T	NP_001338226.1:p.Cys1376=
NR_147094.2:n.4426C>T
NM_001287174.3:c.4134C>T	NP_001274103.1:p.Cys1378=