Canonical Allele Identifier: CA379780962

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17414596T>G (hg19) ; chr11:g.17393049T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17393049T>G , CM000673.2:g.17393049T>G	GRCh38
NC_000011.9:g.17414596T>G , CM000673.1:g.17414596T>G	GRCh37
NC_000011.8:g.17371172T>G	NCBI36
NG_008867.1:g.88854A>C
NG_012446.1:g.611A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.4289A>C
ENST00000526037.6:n.623A>C
ENST00000528374.2:c.1279A>C
ENST00000529967.6:n.3027A>C
ENST00000532220.2:n.3921A>C
ENST00000642611.2:n.6021A>C
ENST00000644057.2:n.1264A>C
ENST00000645004.2:n.2187A>C
ENST00000682051.1:n.4850A>C
ENST00000682110.1:n.4903A>C
ENST00000682140.1:c.*474A>C	ENSP00000507829.1:n.*474A>C
ENST00000682185.1:n.5993A>C
ENST00000682204.1:c.*2826A>C	ENSP00000507094.1:n.*2826A>C
ENST00000682215.1:n.5270A>C
ENST00000682288.1:c.*3119A>C	ENSP00000507506.1:n.*3119A>C
ENST00000682442.1:n.5123A>C
ENST00000682528.1:n.4980A>C
ENST00000682673.1:n.4847A>C
ENST00000682805.1:n.5308A>C
ENST00000682965.1:c.*1110A>C	ENSP00000508229.1:n.*1110A>C
ENST00000683093.1:n.5883A>C
ENST00000683136.1:c.4571A>C	ENSP00000507768.1:p.Glu1524Ala
ENST00000683153.1:n.4945A>C
ENST00000683365.1:n.5005A>C
ENST00000683377.1:n.4799A>C
ENST00000683456.1:c.*1825A>C	ENSP00000508318.1:n.*1825A>C
ENST00000683522.1:n.4985A>C
ENST00000683562.1:c.*2753A>C	ENSP00000508265.1:n.*2753A>C
ENST00000683693.1:n.6364A>C
ENST00000683725.1:c.*153A>C	ENSP00000507496.1:n.*153A>C
ENST00000684010.1:n.4898A>C
ENST00000684014.1:n.875A>C
ENST00000684157.1:n.5888A>C
ENST00000684253.1:n.4806A>C
ENST00000684288.1:c.*2860A>C	ENSP00000507143.1:n.*2860A>C
ENST00000684313.1:n.4335A>C
ENST00000684332.1:n.4976A>C
ENST00000684371.1:n.5009A>C
ENST00000684404.1:n.5931A>C
ENST00000684442.1:n.5127A>C
ENST00000684555.1:c.*2900A>C	ENSP00000507705.1:n.*2900A>C
ENST00000684571.1:c.4529A>C	ENSP00000506935.1:p.Glu1510Ala
ENST00000684593.1:c.*4393A>C	ENSP00000507005.1:n.*4393A>C
ENST00000684711.1:c.*3084A>C	ENSP00000506841.1:n.*3084A>C
ENST00000302539.9:c.4691A>C	ENSP00000303960.4:p.Glu1564Ala
ENST00000389817.8:c.4688A>C MANE Select	ENSP00000374467.4:p.Glu1563Ala
ENST00000642271.1:c.4685A>C	ENSP00000493749.1:p.Glu1562Ala
ENST00000642579.1:c.2742A>C
ENST00000642611.1:n.5906A>C
ENST00000642902.1:c.4470A>C
ENST00000643260.1:c.4688A>C	ENSP00000494450.1:p.Glu1563Ala
ENST00000643562.1:c.*2810A>C	ENSP00000496124.1:n.*2810A>C
ENST00000643925.1:c.3265A>C
ENST00000644057.1:n.847A>C
ENST00000644484.1:c.*4074A>C	ENSP00000493558.1:n.*4074A>C
ENST00000644675.1:c.*2860A>C	ENSP00000494567.1:n.*2860A>C
ENST00000644757.1:c.*3203-69A>C	ENSP00000495085.1:n.*3203-69A>C
ENST00000644772.1:c.4754A>C	ENSP00000494321.1:p.Glu1585Ala
ENST00000645004.1:n.2381A>C
ENST00000645076.1:c.3783A>C
ENST00000645760.1:c.5109A>C
ENST00000645884.1:c.*1971A>C	ENSP00000495516.1:n.*1971A>C
ENST00000646003.1:c.*2710A>C	ENSP00000495259.1:n.*2710A>C
ENST00000646207.1:c.*3525A>C	ENSP00000495025.1:n.*3525A>C
ENST00000646592.1:c.3994A>C
ENST00000646902.1:c.4655A>C	ENSP00000494101.1:p.Glu1552Ala
ENST00000646993.1:c.*3126A>C	ENSP00000493720.1:n.*3126A>C
ENST00000647015.1:c.4439A>C	ENSP00000495389.1:p.Glu1480Ala
ENST00000647086.1:c.*4274A>C	ENSP00000493677.1:n.*4274A>C
ENST00000302539.8:c.4691A>C	ENSP00000303960.4:p.Glu1564Ala
ENST00000389817.7:c.4688A>C	ENSP00000374467.3:p.Glu1563Ala
ENST00000525022.1:n.667A>C
ENST00000526037.5:n.448A>C
ENST00000526168.5:c.476A>C
ENST00000531642.5:c.719A>C
NM_000352.4:c.4688A>C	NP_000343.2:p.Glu1563Ala
NM_001287174.1:c.4691A>C	NP_001274103.1:p.Glu1564Ala
XM_011520331.1:c.4688A>C	XP_011518633.1:p.Glu1563Ala
XM_011520333.1:c.3188A>C	XP_011518635.1:p.Glu1063Ala
XR_930890.1:n.4650A>C
NM_001351295.1:c.4754A>C	NP_001338224.1:p.Glu1585Ala
NM_001351296.1:c.4688A>C	NP_001338225.1:p.Glu1563Ala
NM_001351297.1:c.4685A>C	NP_001338226.1:p.Glu1562Ala
NR_147094.1:n.4983A>C
XM_017018197.2:c.4757A>C	XP_016873686.1:p.Glu1586Ala
XM_017018199.1:c.4754A>C	XP_016873688.1:p.Glu1585Ala
XM_017018202.1:c.3254A>C	XP_016873691.1:p.Glu1085Ala
XM_017018204.1:c.2645A>C	XP_016873693.1:p.Glu882Ala
XM_024448668.1:c.3056A>C	XP_024304436.1:p.Glu1019Ala
XR_001747945.2:n.4725A>C
XR_001747946.2:n.4656A>C
XR_002957189.1:n.6439A>C
NM_000352.6:c.4688A>C MANE Select	NP_000343.2:p.Glu1563Ala
NM_001287174.2:c.4691A>C	NP_001274103.1:p.Glu1564Ala
NM_001351295.2:c.4754A>C	NP_001338224.1:p.Glu1585Ala
NM_001351296.2:c.4688A>C	NP_001338225.1:p.Glu1563Ala
NM_001351297.2:c.4685A>C	NP_001338226.1:p.Glu1562Ala
NR_147094.2:n.4983A>C
NM_001287174.3:c.4691A>C	NP_001274103.1:p.Glu1564Ala