Canonical Allele Identifier: CA5902377

Gene: ABCC8

Linked Data

• ClinVar Variation Id: 1157880
• ClinVar RCV Id: RCV001501106
• dbSNP Id: rs772045105
• ExAC: 11:17414565 G / A
• gnomAD v2: 11-17414565-G-A
• gnomAD v3: 11-17393018-G-A
• gnomAD v4: 11-17393018-G-A
• COSMIC: COSM3445804
• MyVariant Identifiers: chr11:g.17414565G>A (hg19) ; chr11:g.17393018G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17393018G>A , CM000673.2:g.17393018G>A	GRCh38
NC_000011.9:g.17414565G>A , CM000673.1:g.17414565G>A	GRCh37
NC_000011.8:g.17371141G>A	NCBI36
NG_008867.1:g.88885C>T
NG_012446.1:g.642C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000524561.2:n.4320C>T
ENST00000526037.6:n.654C>T
ENST00000528374.2:c.1310C>T
ENST00000529967.6:n.3058C>T
ENST00000532220.2:n.3952C>T
ENST00000642611.2:n.6052C>T
ENST00000644057.2:n.1295C>T
ENST00000645004.2:n.2218C>T
ENST00000682051.1:n.4881C>T
ENST00000682110.1:n.4934C>T
ENST00000682140.1:c.*505C>T	ENSP00000507829.1:n.*505C>T
ENST00000682185.1:n.6024C>T
ENST00000682204.1:c.*2857C>T	ENSP00000507094.1:n.*2857C>T
ENST00000682215.1:n.5301C>T
ENST00000682288.1:c.*3150C>T	ENSP00000507506.1:n.*3150C>T
ENST00000682442.1:n.5154C>T
ENST00000682528.1:n.5011C>T
ENST00000682673.1:n.4878C>T
ENST00000682805.1:n.5339C>T
ENST00000682965.1:c.*1141C>T	ENSP00000508229.1:n.*1141C>T
ENST00000683093.1:n.5914C>T
ENST00000683136.1:c.4602C>T	ENSP00000507768.1:p.Phe1534=
ENST00000683153.1:n.4976C>T
ENST00000683365.1:n.5036C>T
ENST00000683377.1:n.4830C>T
ENST00000683456.1:c.*1856C>T	ENSP00000508318.1:n.*1856C>T
ENST00000683522.1:n.5016C>T
ENST00000683562.1:c.*2784C>T	ENSP00000508265.1:n.*2784C>T
ENST00000683693.1:n.6395C>T
ENST00000683725.1:c.*184C>T	ENSP00000507496.1:n.*184C>T
ENST00000684010.1:n.4929C>T
ENST00000684014.1:n.906C>T
ENST00000684157.1:n.5919C>T
ENST00000684253.1:n.4837C>T
ENST00000684288.1:c.*2891C>T	ENSP00000507143.1:n.*2891C>T
ENST00000684313.1:n.4366C>T
ENST00000684332.1:n.5007C>T
ENST00000684371.1:n.5040C>T
ENST00000684404.1:n.5962C>T
ENST00000684442.1:n.5158C>T
ENST00000684555.1:c.*2931C>T	ENSP00000507705.1:n.*2931C>T
ENST00000684571.1:c.4560C>T	ENSP00000506935.1:p.Phe1520=
ENST00000684593.1:c.*4424C>T	ENSP00000507005.1:n.*4424C>T
ENST00000684711.1:c.*3115C>T	ENSP00000506841.1:n.*3115C>T
ENST00000302539.9:c.4722C>T	ENSP00000303960.4:p.Phe1574=
ENST00000389817.8:c.4719C>T MANE Select	ENSP00000374467.4:p.Phe1573=
ENST00000642271.1:c.4716C>T	ENSP00000493749.1:p.Phe1572=
ENST00000642579.1:c.2773C>T
ENST00000642611.1:n.5937C>T
ENST00000642902.1:c.4501C>T
ENST00000643260.1:c.4719C>T	ENSP00000494450.1:p.Phe1573=
ENST00000643562.1:c.*2841C>T	ENSP00000496124.1:n.*2841C>T
ENST00000643925.1:c.3296C>T
ENST00000644057.1:n.878C>T
ENST00000644484.1:c.*4105C>T	ENSP00000493558.1:n.*4105C>T
ENST00000644675.1:c.*2891C>T	ENSP00000494567.1:n.*2891C>T
ENST00000644757.1:c.*3203-38C>T	ENSP00000495085.1:n.*3203-38C>T
ENST00000644772.1:c.4785C>T	ENSP00000494321.1:p.Phe1595=
ENST00000645004.1:n.2412C>T
ENST00000645076.1:c.3814C>T
ENST00000645760.1:c.5140C>T
ENST00000645884.1:c.*2002C>T	ENSP00000495516.1:n.*2002C>T
ENST00000646003.1:c.*2741C>T	ENSP00000495259.1:n.*2741C>T
ENST00000646207.1:c.*3556C>T	ENSP00000495025.1:n.*3556C>T
ENST00000646592.1:c.4025C>T
ENST00000646902.1:c.4686C>T	ENSP00000494101.1:p.Phe1562=
ENST00000646993.1:c.*3157C>T	ENSP00000493720.1:n.*3157C>T
ENST00000647015.1:c.4470C>T	ENSP00000495389.1:p.Phe1490=
ENST00000647086.1:c.*4305C>T	ENSP00000493677.1:n.*4305C>T
ENST00000302539.8:c.4722C>T	ENSP00000303960.4:p.Phe1574=
ENST00000389817.7:c.4719C>T	ENSP00000374467.3:p.Phe1573=
ENST00000526037.5:n.479C>T
ENST00000526168.5:c.507C>T
ENST00000531642.5:c.750C>T
NM_000352.4:c.4719C>T	NP_000343.2:p.Phe1573=
NM_001287174.1:c.4722C>T	NP_001274103.1:p.Phe1574=
XM_011520331.1:c.4719C>T	XP_011518633.1:p.Phe1573=
XM_011520333.1:c.3219C>T	XP_011518635.1:p.Phe1073=
XR_930890.1:n.4681C>T
NM_001351295.1:c.4785C>T	NP_001338224.1:p.Phe1595=
NM_001351296.1:c.4719C>T	NP_001338225.1:p.Phe1573=
NM_001351297.1:c.4716C>T	NP_001338226.1:p.Phe1572=
NR_147094.1:n.5014C>T
XM_017018197.2:c.4788C>T	XP_016873686.1:p.Phe1596=
XM_017018199.1:c.4785C>T	XP_016873688.1:p.Phe1595=
XM_017018202.1:c.3285C>T	XP_016873691.1:p.Phe1095=
XM_017018204.1:c.2676C>T	XP_016873693.1:p.Phe892=
XM_024448668.1:c.3087C>T	XP_024304436.1:p.Phe1029=
XR_001747945.2:n.4756C>T
XR_001747946.2:n.4687C>T
XR_002957189.1:n.6470C>T
NM_000352.6:c.4719C>T MANE Select	NP_000343.2:p.Phe1573=
NM_001287174.2:c.4722C>T	NP_001274103.1:p.Phe1574=
NM_001351295.2:c.4785C>T	NP_001338224.1:p.Phe1595=
NM_001351296.2:c.4719C>T	NP_001338225.1:p.Phe1573=
NM_001351297.2:c.4716C>T	NP_001338226.1:p.Phe1572=
NR_147094.2:n.5014C>T
NM_001287174.3:c.4722C>T	NP_001274103.1:p.Phe1574=