Canonical Allele Identifier: CA379783174

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17394326-G-C
• MyVariant Identifiers: chr11:g.17415873G>C (hg19) ; chr11:g.17394326G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17394326G>C , CM000673.2:g.17394326G>C	GRCh38
NC_000011.9:g.17415873G>C , CM000673.1:g.17415873G>C	GRCh37
NC_000011.8:g.17372449G>C	NCBI36
NG_008867.1:g.87577C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.4086C>G
ENST00000526037.6:n.420C>G
ENST00000528374.2:c.1076C>G
ENST00000529967.6:n.2824C>G
ENST00000532220.2:n.3718C>G
ENST00000642611.2:n.5818C>G
ENST00000644057.2:n.1061C>G
ENST00000645004.2:n.1984C>G
ENST00000682051.1:n.4647C>G
ENST00000682110.1:n.4700C>G
ENST00000682140.1:c.*271C>G	ENSP00000507829.1:n.*271C>G
ENST00000682185.1:n.5790C>G
ENST00000682204.1:c.*2623C>G	ENSP00000507094.1:n.*2623C>G
ENST00000682215.1:n.5067C>G
ENST00000682288.1:c.*2916C>G	ENSP00000507506.1:n.*2916C>G
ENST00000682442.1:n.4920C>G
ENST00000682528.1:n.4777C>G
ENST00000682673.1:n.4644C>G
ENST00000682805.1:n.5105C>G
ENST00000682965.1:c.*907C>G	ENSP00000508229.1:n.*907C>G
ENST00000683093.1:n.5680C>G
ENST00000683136.1:c.4368C>G	ENSP00000507768.1:p.Phe1456Leu
ENST00000683153.1:n.4742C>G
ENST00000683365.1:n.4802C>G
ENST00000683377.1:n.4596C>G
ENST00000683456.1:c.*1622C>G	ENSP00000508318.1:n.*1622C>G
ENST00000683522.1:n.4782C>G
ENST00000683562.1:c.*2550C>G	ENSP00000508265.1:n.*2550C>G
ENST00000683693.1:n.6161C>G
ENST00000683725.1:c.4381C>G	ENSP00000507496.1:p.Arg1461Gly
ENST00000684010.1:n.4695C>G
ENST00000684014.1:n.672C>G
ENST00000684157.1:n.5685C>G
ENST00000684253.1:n.4603C>G
ENST00000684288.1:c.*2657C>G	ENSP00000507143.1:n.*2657C>G
ENST00000684313.1:n.4132C>G
ENST00000684332.1:n.4773C>G
ENST00000684371.1:n.4806C>G
ENST00000684404.1:n.5728C>G
ENST00000684442.1:n.4924C>G
ENST00000684555.1:c.*2697C>G	ENSP00000507705.1:n.*2697C>G
ENST00000684571.1:c.4326C>G	ENSP00000506935.1:p.Phe1442Leu
ENST00000684593.1:c.*4190C>G	ENSP00000507005.1:n.*4190C>G
ENST00000684711.1:c.*2881C>G	ENSP00000506841.1:n.*2881C>G
ENST00000302539.9:c.4488C>G	ENSP00000303960.4:p.Phe1496Leu
ENST00000389817.8:c.4485C>G MANE Select	ENSP00000374467.4:p.Phe1495Leu
ENST00000642271.1:c.4482C>G	ENSP00000493749.1:p.Phe1494Leu
ENST00000642579.1:c.2539C>G
ENST00000642611.1:n.5703C>G
ENST00000642902.1:c.4267C>G
ENST00000643260.1:c.4485C>G	ENSP00000494450.1:p.Phe1495Leu
ENST00000643562.1:c.*2607C>G	ENSP00000496124.1:n.*2607C>G
ENST00000643925.1:c.3125C>G
ENST00000644057.1:n.644C>G
ENST00000644484.1:c.*3871C>G	ENSP00000493558.1:n.*3871C>G
ENST00000644675.1:c.*2657C>G	ENSP00000494567.1:n.*2657C>G
ENST00000644757.1:c.*3203-1346C>G	ENSP00000495085.1:n.*3203-1346C>G
ENST00000644772.1:c.4551C>G	ENSP00000494321.1:p.Phe1517Leu
ENST00000645004.1:n.2178C>G
ENST00000645076.1:c.3580C>G
ENST00000645417.1:c.1673C>G
ENST00000645744.1:c.*4170C>G	ENSP00000494564.1:n.*4170C>G
ENST00000645760.1:c.4906C>G
ENST00000645884.1:c.*1768C>G	ENSP00000495516.1:n.*1768C>G
ENST00000646003.1:c.*2507C>G	ENSP00000495259.1:n.*2507C>G
ENST00000646207.1:c.*3322C>G	ENSP00000495025.1:n.*3322C>G
ENST00000646276.1:c.*3889C>G	ENSP00000496070.1:n.*3889C>G
ENST00000646592.1:c.3791C>G
ENST00000646902.1:c.4452C>G	ENSP00000494101.1:p.Phe1484Leu
ENST00000646993.1:c.*2923C>G	ENSP00000493720.1:n.*2923C>G
ENST00000647013.1:c.4491C>G	ENSP00000496741.1:n.4491C>G
ENST00000647015.1:c.4236C>G	ENSP00000495389.1:p.Phe1412Leu
ENST00000647086.1:c.*4071C>G	ENSP00000493677.1:n.*4071C>G
ENST00000647158.1:c.*2772C>G	ENSP00000495744.1:n.*2772C>G
ENST00000302539.8:c.4488C>G	ENSP00000303960.4:p.Phe1496Leu
ENST00000389817.7:c.4485C>G	ENSP00000374467.3:p.Phe1495Leu
ENST00000525022.1:n.380C>G
ENST00000526037.5:n.245C>G
ENST00000526168.5:c.273C>G
ENST00000531642.5:c.516C>G
NM_000352.4:c.4485C>G	NP_000343.2:p.Phe1495Leu
NM_001287174.1:c.4488C>G	NP_001274103.1:p.Phe1496Leu
XM_011520331.1:c.4485C>G	XP_011518633.1:p.Phe1495Leu
XM_011520332.1:c.4384C>G	XP_011518634.1:p.Arg1462Gly
XM_011520333.1:c.2985C>G	XP_011518635.1:p.Phe995Leu
XR_930890.1:n.4447C>G
NM_001351295.1:c.4551C>G	NP_001338224.1:p.Phe1517Leu
NM_001351296.1:c.4485C>G	NP_001338225.1:p.Phe1495Leu
NM_001351297.1:c.4482C>G	NP_001338226.1:p.Phe1494Leu
NR_147094.1:n.4780C>G
XM_017018197.2:c.4554C>G	XP_016873686.1:p.Phe1518Leu
XM_017018199.1:c.4551C>G	XP_016873688.1:p.Phe1517Leu
XM_017018201.2:c.4450C>G	XP_016873690.1:p.Arg1484Gly
XM_017018202.1:c.3051C>G	XP_016873691.1:p.Phe1017Leu
XM_017018204.1:c.2442C>G	XP_016873693.1:p.Phe814Leu
XM_024448668.1:c.2853C>G	XP_024304436.1:p.Phe951Leu
XR_001747945.2:n.4522C>G
XR_001747946.2:n.4453C>G
XR_002957189.1:n.6236C>G
NM_000352.6:c.4485C>G MANE Select	NP_000343.2:p.Phe1495Leu
NM_001287174.2:c.4488C>G	NP_001274103.1:p.Phe1496Leu
NM_001351295.2:c.4551C>G	NP_001338224.1:p.Phe1517Leu
NM_001351296.2:c.4485C>G	NP_001338225.1:p.Phe1495Leu
NM_001351297.2:c.4482C>G	NP_001338226.1:p.Phe1494Leu
NR_147094.2:n.4780C>G
NM_001287174.3:c.4488C>G	NP_001274103.1:p.Phe1496Leu