Canonical Allele Identifier: CA379780892

Gene: ABCC8

Linked Data

• dbSNP Id: rs1268576245
• gnomAD v4: 11-17393035-G-C
• MyVariant Identifiers: chr11:g.17414582G>C (hg19) ; chr11:g.17393035G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17393035G>C , CM000673.2:g.17393035G>C	GRCh38
NC_000011.9:g.17414582G>C , CM000673.1:g.17414582G>C	GRCh37
NC_000011.8:g.17371158G>C	NCBI36
NG_008867.1:g.88868C>G
NG_012446.1:g.625C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.4303C>G
ENST00000526037.6:n.637C>G
ENST00000528374.2:c.1293C>G
ENST00000529967.6:n.3041C>G
ENST00000532220.2:n.3935C>G
ENST00000642611.2:n.6035C>G
ENST00000644057.2:n.1278C>G
ENST00000645004.2:n.2201C>G
ENST00000682051.1:n.4864C>G
ENST00000682110.1:n.4917C>G
ENST00000682140.1:c.*488C>G	ENSP00000507829.1:n.*488C>G
ENST00000682185.1:n.6007C>G
ENST00000682204.1:c.*2840C>G	ENSP00000507094.1:n.*2840C>G
ENST00000682215.1:n.5284C>G
ENST00000682288.1:c.*3133C>G	ENSP00000507506.1:n.*3133C>G
ENST00000682442.1:n.5137C>G
ENST00000682528.1:n.4994C>G
ENST00000682673.1:n.4861C>G
ENST00000682805.1:n.5322C>G
ENST00000682965.1:c.*1124C>G	ENSP00000508229.1:n.*1124C>G
ENST00000683093.1:n.5897C>G
ENST00000683136.1:c.4585C>G	ENSP00000507768.1:p.Arg1529Gly
ENST00000683153.1:n.4959C>G
ENST00000683365.1:n.5019C>G
ENST00000683377.1:n.4813C>G
ENST00000683456.1:c.*1839C>G	ENSP00000508318.1:n.*1839C>G
ENST00000683522.1:n.4999C>G
ENST00000683562.1:c.*2767C>G	ENSP00000508265.1:n.*2767C>G
ENST00000683693.1:n.6378C>G
ENST00000683725.1:c.*167C>G	ENSP00000507496.1:n.*167C>G
ENST00000684010.1:n.4912C>G
ENST00000684014.1:n.889C>G
ENST00000684157.1:n.5902C>G
ENST00000684253.1:n.4820C>G
ENST00000684288.1:c.*2874C>G	ENSP00000507143.1:n.*2874C>G
ENST00000684313.1:n.4349C>G
ENST00000684332.1:n.4990C>G
ENST00000684371.1:n.5023C>G
ENST00000684404.1:n.5945C>G
ENST00000684442.1:n.5141C>G
ENST00000684555.1:c.*2914C>G	ENSP00000507705.1:n.*2914C>G
ENST00000684571.1:c.4543C>G	ENSP00000506935.1:p.Arg1515Gly
ENST00000684593.1:c.*4407C>G	ENSP00000507005.1:n.*4407C>G
ENST00000684711.1:c.*3098C>G	ENSP00000506841.1:n.*3098C>G
ENST00000302539.9:c.4705C>G	ENSP00000303960.4:p.Arg1569Gly
ENST00000389817.8:c.4702C>G MANE Select	ENSP00000374467.4:p.Arg1568Gly
ENST00000642271.1:c.4699C>G	ENSP00000493749.1:p.Arg1567Gly
ENST00000642579.1:c.2756C>G
ENST00000642611.1:n.5920C>G
ENST00000642902.1:c.4484C>G
ENST00000643260.1:c.4702C>G	ENSP00000494450.1:p.Arg1568Gly
ENST00000643562.1:c.*2824C>G	ENSP00000496124.1:n.*2824C>G
ENST00000643925.1:c.3279C>G
ENST00000644057.1:n.861C>G
ENST00000644484.1:c.*4088C>G	ENSP00000493558.1:n.*4088C>G
ENST00000644675.1:c.*2874C>G	ENSP00000494567.1:n.*2874C>G
ENST00000644757.1:c.*3203-55C>G	ENSP00000495085.1:n.*3203-55C>G
ENST00000644772.1:c.4768C>G	ENSP00000494321.1:p.Arg1590Gly
ENST00000645004.1:n.2395C>G
ENST00000645076.1:c.3797C>G
ENST00000645760.1:c.5123C>G
ENST00000645884.1:c.*1985C>G	ENSP00000495516.1:n.*1985C>G
ENST00000646003.1:c.*2724C>G	ENSP00000495259.1:n.*2724C>G
ENST00000646207.1:c.*3539C>G	ENSP00000495025.1:n.*3539C>G
ENST00000646592.1:c.4008C>G
ENST00000646902.1:c.4669C>G	ENSP00000494101.1:p.Arg1557Gly
ENST00000646993.1:c.*3140C>G	ENSP00000493720.1:n.*3140C>G
ENST00000647015.1:c.4453C>G	ENSP00000495389.1:p.Arg1485Gly
ENST00000647086.1:c.*4288C>G	ENSP00000493677.1:n.*4288C>G
ENST00000302539.8:c.4705C>G	ENSP00000303960.4:p.Arg1569Gly
ENST00000389817.7:c.4702C>G	ENSP00000374467.3:p.Arg1568Gly
ENST00000526037.5:n.462C>G
ENST00000526168.5:c.490C>G
ENST00000531642.5:c.733C>G
NM_000352.4:c.4702C>G	NP_000343.2:p.Arg1568Gly
NM_001287174.1:c.4705C>G	NP_001274103.1:p.Arg1569Gly
XM_011520331.1:c.4702C>G	XP_011518633.1:p.Arg1568Gly
XM_011520333.1:c.3202C>G	XP_011518635.1:p.Arg1068Gly
XR_930890.1:n.4664C>G
NM_001351295.1:c.4768C>G	NP_001338224.1:p.Arg1590Gly
NM_001351296.1:c.4702C>G	NP_001338225.1:p.Arg1568Gly
NM_001351297.1:c.4699C>G	NP_001338226.1:p.Arg1567Gly
NR_147094.1:n.4997C>G
XM_017018197.2:c.4771C>G	XP_016873686.1:p.Arg1591Gly
XM_017018199.1:c.4768C>G	XP_016873688.1:p.Arg1590Gly
XM_017018202.1:c.3268C>G	XP_016873691.1:p.Arg1090Gly
XM_017018204.1:c.2659C>G	XP_016873693.1:p.Arg887Gly
XM_024448668.1:c.3070C>G	XP_024304436.1:p.Arg1024Gly
XR_001747945.2:n.4739C>G
XR_001747946.2:n.4670C>G
XR_002957189.1:n.6453C>G
NM_000352.6:c.4702C>G MANE Select	NP_000343.2:p.Arg1568Gly
NM_001287174.2:c.4705C>G	NP_001274103.1:p.Arg1569Gly
NM_001351295.2:c.4768C>G	NP_001338224.1:p.Arg1590Gly
NM_001351296.2:c.4702C>G	NP_001338225.1:p.Arg1568Gly
NM_001351297.2:c.4699C>G	NP_001338226.1:p.Arg1567Gly
NR_147094.2:n.4997C>G
NM_001287174.3:c.4705C>G	NP_001274103.1:p.Arg1569Gly