Canonical Allele Identifier: CA379781418

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17414650G>C (hg19) ; chr11:g.17393103G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17393103G>C , CM000673.2:g.17393103G>C	GRCh38
NC_000011.9:g.17414650G>C , CM000673.1:g.17414650G>C	GRCh37
NC_000011.8:g.17371226G>C	NCBI36
NG_008867.1:g.88800C>G
NG_012446.1:g.557C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.4235C>G
ENST00000526037.6:n.569C>G
ENST00000528374.2:c.1225C>G
ENST00000529967.6:n.2973C>G
ENST00000532220.2:n.3867C>G
ENST00000642611.2:n.5967C>G
ENST00000644057.2:n.1210C>G
ENST00000645004.2:n.2133C>G
ENST00000682051.1:n.4796C>G
ENST00000682110.1:n.4849C>G
ENST00000682140.1:c.*420C>G	ENSP00000507829.1:n.*420C>G
ENST00000682185.1:n.5939C>G
ENST00000682204.1:c.*2772C>G	ENSP00000507094.1:n.*2772C>G
ENST00000682215.1:n.5216C>G
ENST00000682288.1:c.*3065C>G	ENSP00000507506.1:n.*3065C>G
ENST00000682442.1:n.5069C>G
ENST00000682528.1:n.4926C>G
ENST00000682673.1:n.4793C>G
ENST00000682805.1:n.5254C>G
ENST00000682965.1:c.*1056C>G	ENSP00000508229.1:n.*1056C>G
ENST00000683093.1:n.5829C>G
ENST00000683136.1:c.4517C>G	ENSP00000507768.1:p.Ala1506Gly
ENST00000683153.1:n.4891C>G
ENST00000683365.1:n.4951C>G
ENST00000683377.1:n.4745C>G
ENST00000683456.1:c.*1771C>G	ENSP00000508318.1:n.*1771C>G
ENST00000683522.1:n.4931C>G
ENST00000683562.1:c.*2699C>G	ENSP00000508265.1:n.*2699C>G
ENST00000683693.1:n.6310C>G
ENST00000683725.1:c.*99C>G	ENSP00000507496.1:n.*99C>G
ENST00000684010.1:n.4844C>G
ENST00000684014.1:n.821C>G
ENST00000684157.1:n.5834C>G
ENST00000684253.1:n.4752C>G
ENST00000684288.1:c.*2806C>G	ENSP00000507143.1:n.*2806C>G
ENST00000684313.1:n.4281C>G
ENST00000684332.1:n.4922C>G
ENST00000684371.1:n.4955C>G
ENST00000684404.1:n.5877C>G
ENST00000684442.1:n.5073C>G
ENST00000684555.1:c.*2846C>G	ENSP00000507705.1:n.*2846C>G
ENST00000684571.1:c.4475C>G	ENSP00000506935.1:p.Ala1492Gly
ENST00000684593.1:c.*4339C>G	ENSP00000507005.1:n.*4339C>G
ENST00000684711.1:c.*3030C>G	ENSP00000506841.1:n.*3030C>G
ENST00000302539.9:c.4637C>G	ENSP00000303960.4:p.Ala1546Gly
ENST00000389817.8:c.4634C>G MANE Select	ENSP00000374467.4:p.Ala1545Gly
ENST00000642271.1:c.4631C>G	ENSP00000493749.1:p.Ala1544Gly
ENST00000642579.1:c.2688C>G
ENST00000642611.1:n.5852C>G
ENST00000642902.1:c.4416C>G
ENST00000643260.1:c.4634C>G	ENSP00000494450.1:p.Ala1545Gly
ENST00000643562.1:c.*2756C>G	ENSP00000496124.1:n.*2756C>G
ENST00000643925.1:c.3211C>G
ENST00000644057.1:n.793C>G
ENST00000644484.1:c.*4020C>G	ENSP00000493558.1:n.*4020C>G
ENST00000644675.1:c.*2806C>G	ENSP00000494567.1:n.*2806C>G
ENST00000644757.1:c.*3203-123C>G	ENSP00000495085.1:n.*3203-123C>G
ENST00000644772.1:c.4700C>G	ENSP00000494321.1:p.Ala1567Gly
ENST00000645004.1:n.2327C>G
ENST00000645076.1:c.3729C>G
ENST00000645417.1:c.1822C>G
ENST00000645760.1:c.5055C>G
ENST00000645884.1:c.*1917C>G	ENSP00000495516.1:n.*1917C>G
ENST00000646003.1:c.*2656C>G	ENSP00000495259.1:n.*2656C>G
ENST00000646207.1:c.*3471C>G	ENSP00000495025.1:n.*3471C>G
ENST00000646276.1:c.*4038C>G	ENSP00000496070.1:n.*4038C>G
ENST00000646592.1:c.3940C>G
ENST00000646902.1:c.4601C>G	ENSP00000494101.1:p.Ala1534Gly
ENST00000646993.1:c.*3072C>G	ENSP00000493720.1:n.*3072C>G
ENST00000647015.1:c.4385C>G	ENSP00000495389.1:p.Ala1462Gly
ENST00000647086.1:c.*4220C>G	ENSP00000493677.1:n.*4220C>G
ENST00000647158.1:c.*2921C>G	ENSP00000495744.1:n.*2921C>G
ENST00000302539.8:c.4637C>G	ENSP00000303960.4:p.Ala1546Gly
ENST00000389817.7:c.4634C>G	ENSP00000374467.3:p.Ala1545Gly
ENST00000525022.1:n.613C>G
ENST00000526037.5:n.394C>G
ENST00000526168.5:c.422C>G
ENST00000531642.5:c.665C>G
NM_000352.4:c.4634C>G	NP_000343.2:p.Ala1545Gly
NM_001287174.1:c.4637C>G	NP_001274103.1:p.Ala1546Gly
XM_011520331.1:c.4634C>G	XP_011518633.1:p.Ala1545Gly
XM_011520333.1:c.3134C>G	XP_011518635.1:p.Ala1045Gly
XR_930890.1:n.4596C>G
NM_001351295.1:c.4700C>G	NP_001338224.1:p.Ala1567Gly
NM_001351296.1:c.4634C>G	NP_001338225.1:p.Ala1545Gly
NM_001351297.1:c.4631C>G	NP_001338226.1:p.Ala1544Gly
NR_147094.1:n.4929C>G
XM_017018197.2:c.4703C>G	XP_016873686.1:p.Ala1568Gly
XM_017018199.1:c.4700C>G	XP_016873688.1:p.Ala1567Gly
XM_017018202.1:c.3200C>G	XP_016873691.1:p.Ala1067Gly
XM_017018204.1:c.2591C>G	XP_016873693.1:p.Ala864Gly
XM_024448668.1:c.3002C>G	XP_024304436.1:p.Ala1001Gly
XR_001747945.2:n.4671C>G
XR_001747946.2:n.4602C>G
XR_002957189.1:n.6385C>G
NM_000352.6:c.4634C>G MANE Select	NP_000343.2:p.Ala1545Gly
NM_001287174.2:c.4637C>G	NP_001274103.1:p.Ala1546Gly
NM_001351295.2:c.4700C>G	NP_001338224.1:p.Ala1567Gly
NM_001351296.2:c.4634C>G	NP_001338225.1:p.Ala1545Gly
NM_001351297.2:c.4631C>G	NP_001338226.1:p.Ala1544Gly
NR_147094.2:n.4929C>G
NM_001287174.3:c.4637C>G	NP_001274103.1:p.Ala1546Gly