Canonical Allele Identifier: CA379790654

Gene: ABCC8

Linked Data

• ClinVar Variation Id: 2027939
• ClinVar RCV Id: RCV002863396
• MyVariant Identifiers: chr11:g.17418525A>G (hg19) ; chr11:g.17396978A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17396978A>G , CM000673.2:g.17396978A>G	GRCh38
NC_000011.9:g.17418525A>G , CM000673.1:g.17418525A>G	GRCh37
NC_000011.8:g.17375101A>G	NCBI36
NG_008867.1:g.84925T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3658T>C
ENST00000528374.2:c.648T>C
ENST00000529967.6:n.2396T>C
ENST00000532220.2:n.2305T>C
ENST00000642611.2:n.4272T>C
ENST00000644057.2:n.500T>C
ENST00000645004.2:n.1556T>C
ENST00000682051.1:n.4219T>C
ENST00000682110.1:n.4272T>C
ENST00000682140.1:c.3985+215T>C	ENSP00000507829.1:n.3985+215T>C
ENST00000682185.1:n.5362T>C
ENST00000682204.1:c.*2195T>C	ENSP00000507094.1:n.*2195T>C
ENST00000682215.1:n.4639T>C
ENST00000682288.1:c.*2488T>C	ENSP00000507506.1:n.*2488T>C
ENST00000682442.1:n.4492T>C
ENST00000682528.1:n.4349T>C
ENST00000682673.1:n.4216T>C
ENST00000682805.1:n.4639T>C
ENST00000682965.1:c.*479T>C	ENSP00000508229.1:n.*479T>C
ENST00000683093.1:n.4371T>C
ENST00000683136.1:c.3940T>C	ENSP00000507768.1:p.Tyr1314His
ENST00000683153.1:n.4314T>C
ENST00000683365.1:n.4374T>C
ENST00000683377.1:n.4272T>C
ENST00000683456.1:c.*1194T>C	ENSP00000508318.1:n.*1194T>C
ENST00000683522.1:n.4272T>C
ENST00000683562.1:c.*2226T>C	ENSP00000508265.1:n.*2226T>C
ENST00000683693.1:n.4719T>C
ENST00000683725.1:c.4057T>C	ENSP00000507496.1:p.Tyr1353His
ENST00000684010.1:n.4267T>C
ENST00000684157.1:n.4272T>C
ENST00000684253.1:n.4175T>C
ENST00000684288.1:c.*2229T>C	ENSP00000507143.1:n.*2229T>C
ENST00000684313.1:n.3704T>C
ENST00000684332.1:n.4345T>C
ENST00000684371.1:n.4378T>C
ENST00000684404.1:n.4315T>C
ENST00000684442.1:n.4496T>C
ENST00000684555.1:c.*2269T>C	ENSP00000507705.1:n.*2269T>C
ENST00000684571.1:c.3898T>C	ENSP00000506935.1:p.Tyr1300His
ENST00000684593.1:c.*3762T>C	ENSP00000507005.1:n.*3762T>C
ENST00000684711.1:c.*2453T>C	ENSP00000506841.1:n.*2453T>C
ENST00000302539.9:c.4060T>C	ENSP00000303960.4:p.Tyr1354His
ENST00000389817.8:c.4057T>C MANE Select	ENSP00000374467.4:p.Tyr1353His
ENST00000642271.1:c.4054T>C	ENSP00000493749.1:p.Tyr1352His
ENST00000642579.1:c.2111T>C
ENST00000642611.1:n.4157T>C
ENST00000642902.1:c.3839T>C
ENST00000643260.1:c.4057T>C	ENSP00000494450.1:p.Tyr1353His
ENST00000643562.1:c.*2179T>C	ENSP00000496124.1:n.*2179T>C
ENST00000643925.1:c.2697T>C
ENST00000644057.1:n.134T>C
ENST00000644484.1:c.*2458T>C	ENSP00000493558.1:n.*2458T>C
ENST00000644675.1:c.*2229T>C	ENSP00000494567.1:n.*2229T>C
ENST00000644757.1:c.*2488T>C	ENSP00000495085.1:n.*2488T>C
ENST00000644772.1:c.4123T>C	ENSP00000494321.1:p.Tyr1375His
ENST00000645004.1:n.1712T>C
ENST00000645076.1:c.3256T>C
ENST00000645417.1:c.1245T>C
ENST00000645744.1:c.*2837T>C	ENSP00000494564.1:n.*2837T>C
ENST00000645760.1:c.4478T>C
ENST00000645884.1:c.*1340T>C	ENSP00000495516.1:n.*1340T>C
ENST00000646003.1:c.*2159T>C	ENSP00000495259.1:n.*2159T>C
ENST00000646207.1:c.*2894T>C	ENSP00000495025.1:n.*2894T>C
ENST00000646276.1:c.*2476T>C	ENSP00000496070.1:n.*2476T>C
ENST00000646592.1:c.3363T>C
ENST00000646902.1:c.4024T>C	ENSP00000494101.1:p.Tyr1342His
ENST00000646993.1:c.*2599T>C	ENSP00000493720.1:n.*2599T>C
ENST00000647013.1:c.4063T>C	ENSP00000496741.1:n.4063T>C
ENST00000647015.1:c.3808T>C	ENSP00000495389.1:p.Tyr1270His
ENST00000647086.1:c.*3643T>C	ENSP00000493677.1:n.*3643T>C
ENST00000647158.1:c.*2344T>C	ENSP00000495744.1:n.*2344T>C
ENST00000302539.8:c.4060T>C	ENSP00000303960.4:p.Tyr1354His
ENST00000389817.7:c.4057T>C	ENSP00000374467.3:p.Tyr1353His
ENST00000527905.5:c.*1079T>C	ENSP00000431653.1:n.*1079T>C
ENST00000528374.1:c.539T>C
ENST00000531137.1:n.622T>C
ENST00000531891.1:c.395T>C
ENST00000532220.1:n.531T>C
NM_000352.4:c.4057T>C	NP_000343.2:p.Tyr1353His
NM_001287174.1:c.4060T>C	NP_001274103.1:p.Tyr1354His
XM_011520331.1:c.4057T>C	XP_011518633.1:p.Tyr1353His
XM_011520332.1:c.4060T>C	XP_011518634.1:p.Tyr1354His
XM_011520333.1:c.2557T>C	XP_011518635.1:p.Tyr853His
XR_930890.1:n.4123T>C
NM_001351295.1:c.4123T>C	NP_001338224.1:p.Tyr1375His
NM_001351296.1:c.4057T>C	NP_001338225.1:p.Tyr1353His
NM_001351297.1:c.4054T>C	NP_001338226.1:p.Tyr1352His
NR_147094.1:n.4352T>C
XM_017018197.2:c.4126T>C	XP_016873686.1:p.Tyr1376His
XM_017018199.1:c.4123T>C	XP_016873688.1:p.Tyr1375His
XM_017018201.2:c.4126T>C	XP_016873690.1:p.Tyr1376His
XM_017018202.1:c.2623T>C	XP_016873691.1:p.Tyr875His
XM_017018204.1:c.2014T>C	XP_016873693.1:p.Tyr672His
XM_024448668.1:c.2425T>C	XP_024304436.1:p.Tyr809His
XR_001747945.2:n.4198T>C
XR_001747946.2:n.4129T>C
XR_002957189.1:n.4794T>C
NM_000352.6:c.4057T>C MANE Select	NP_000343.2:p.Tyr1353His
NM_001287174.2:c.4060T>C	NP_001274103.1:p.Tyr1354His
NM_001351295.2:c.4123T>C	NP_001338224.1:p.Tyr1375His
NM_001351296.2:c.4057T>C	NP_001338225.1:p.Tyr1353His
NM_001351297.2:c.4054T>C	NP_001338226.1:p.Tyr1352His
NR_147094.2:n.4352T>C
NM_001287174.3:c.4060T>C	NP_001274103.1:p.Tyr1354His