Canonical Allele Identifier: CA379815376

Gene: ABCC8

Linked Data

• COSMIC: COSM3979450
• MyVariant Identifiers: chr11:g.17449929C>A (hg19) ; chr11:g.17428382C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17428382C>A , CM000673.2:g.17428382C>A	GRCh38
NC_000011.9:g.17449929C>A , CM000673.1:g.17449929C>A	GRCh37
NC_000011.8:g.17406505C>A	NCBI36
NG_008867.1:g.53521G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.1616G>T
ENST00000529967.6:n.206G>T
ENST00000642611.2:n.2013G>T
ENST00000682051.1:n.1960G>T
ENST00000682110.1:n.2013G>T
ENST00000682140.1:c.1944G>T	ENSP00000507829.1:p.Lys648Asn
ENST00000682185.1:n.3252G>T
ENST00000682204.1:c.*85G>T	ENSP00000507094.1:n.*85G>T
ENST00000682215.1:n.2013G>T
ENST00000682288.1:c.*375G>T	ENSP00000507506.1:n.*375G>T
ENST00000682442.1:n.2134G>T
ENST00000682528.1:n.2013G>T
ENST00000682673.1:n.1960G>T
ENST00000682805.1:n.2013G>T
ENST00000682965.1:c.1944G>T	ENSP00000508229.1:p.Lys648Asn
ENST00000683093.1:n.2115G>T
ENST00000683136.1:c.1944G>T	ENSP00000507768.1:p.Lys648Asn
ENST00000683153.1:n.2172G>T
ENST00000683253.1:n.3029G>T
ENST00000683365.1:n.2115G>T
ENST00000683377.1:n.2013G>T
ENST00000683456.1:c.1944G>T	ENSP00000508318.1:p.Lys648Asn
ENST00000683522.1:n.2013G>T
ENST00000683562.1:c.*116G>T	ENSP00000508265.1:n.*116G>T
ENST00000683693.1:n.2013G>T
ENST00000683725.1:c.1947G>T	ENSP00000507496.1:p.Lys649Asn
ENST00000684010.1:n.2013G>T
ENST00000684157.1:n.2013G>T
ENST00000684253.1:n.1919G>T
ENST00000684288.1:c.*116G>T	ENSP00000507143.1:n.*116G>T
ENST00000684313.1:n.1724-11420G>T
ENST00000684332.1:n.2086G>T
ENST00000684371.1:n.2119G>T
ENST00000684404.1:n.2013G>T
ENST00000684442.1:n.2013G>T
ENST00000684555.1:c.*156G>T	ENSP00000507705.1:n.*156G>T
ENST00000684571.1:c.1788G>T	ENSP00000506935.1:p.Lys596Asn
ENST00000684593.1:c.*1652G>T	ENSP00000507005.1:n.*1652G>T
ENST00000684711.1:c.*343G>T	ENSP00000506841.1:n.*343G>T
ENST00000302539.9:c.1947G>T	ENSP00000303960.4:p.Lys649Asn
ENST00000389817.8:c.1947G>T MANE Select	ENSP00000374467.4:p.Lys649Asn
ENST00000532728.6:c.1528G>T
ENST00000642271.1:c.1944G>T	ENSP00000493749.1:p.Lys648Asn
ENST00000642579.1:c.28G>T
ENST00000642611.1:n.1898G>T
ENST00000642902.1:c.1782G>T
ENST00000643260.1:c.1944G>T	ENSP00000494450.1:p.Lys648Asn
ENST00000643562.1:c.1939G>T	ENSP00000496124.1:p.Ala647Ser
ENST00000644447.1:c.300G>T	ENSP00000496282.1:p.Lys100Asn
ENST00000644472.1:c.*308G>T	ENSP00000495378.1:n.*308G>T
ENST00000644484.1:c.*156G>T	ENSP00000493558.1:n.*156G>T
ENST00000644542.1:c.*1649G>T	ENSP00000495532.1:n.*1649G>T
ENST00000644649.1:c.1117G>T
ENST00000644675.1:c.*116G>T	ENSP00000494567.1:n.*116G>T
ENST00000644757.1:c.*249G>T	ENSP00000495085.1:n.*249G>T
ENST00000644772.1:c.2013G>T	ENSP00000494321.1:p.Lys671Asn
ENST00000645076.1:c.1199G>T
ENST00000645744.1:c.*308G>T	ENSP00000494564.1:n.*308G>T
ENST00000645760.1:c.2222G>T
ENST00000645884.1:c.1944G>T	ENSP00000495516.1:p.Lys648Asn
ENST00000646003.1:c.*85G>T	ENSP00000495259.1:n.*85G>T
ENST00000646207.1:c.*308G>T	ENSP00000495025.1:n.*308G>T
ENST00000646276.1:c.*217G>T	ENSP00000496070.1:n.*217G>T
ENST00000646592.1:c.1170G>T
ENST00000646902.1:c.1944G>T	ENSP00000494101.1:p.Lys648Asn
ENST00000646993.1:c.*343G>T	ENSP00000493720.1:n.*343G>T
ENST00000647013.1:c.1950G>T	ENSP00000496741.1:n.1950G>T
ENST00000647015.1:c.1695G>T	ENSP00000495389.1:p.Lys565Asn
ENST00000647086.1:c.*1674G>T	ENSP00000493677.1:n.*1674G>T
ENST00000647158.1:c.*85G>T	ENSP00000495744.1:n.*85G>T
ENST00000302539.8:c.1947G>T	ENSP00000303960.4:p.Lys649Asn
ENST00000389817.7:c.1947G>T	ENSP00000374467.3:p.Lys649Asn
ENST00000527905.5:c.1917G>T	ENSP00000431653.1:p.Lys639Asn
NM_000352.4:c.1947G>T	NP_000343.2:p.Lys649Asn
NM_001287174.1:c.1947G>T	NP_001274103.1:p.Lys649Asn
XM_011520331.1:c.1944G>T	XP_011518633.1:p.Lys648Asn
XM_011520332.1:c.1947G>T	XP_011518634.1:p.Lys649Asn
XM_011520333.1:c.444G>T	XP_011518635.1:p.Lys148Asn
XM_011520334.1:c.1947G>T	XP_011518636.1:p.Lys649Asn
XR_930890.1:n.2010G>T
XR_930891.1:n.2010G>T
XR_930892.1:n.2010G>T
XR_930893.1:n.2010G>T
NM_001351295.1:c.2013G>T	NP_001338224.1:p.Lys671Asn
NM_001351296.1:c.1944G>T	NP_001338225.1:p.Lys648Asn
NM_001351297.1:c.1944G>T	NP_001338226.1:p.Lys648Asn
NR_147094.1:n.2013G>T
XM_017018197.2:c.2013G>T	XP_016873686.1:p.Lys671Asn
XM_017018199.1:c.2010G>T	XP_016873688.1:p.Lys670Asn
XM_017018201.2:c.2013G>T	XP_016873690.1:p.Lys671Asn
XM_017018202.1:c.510G>T	XP_016873691.1:p.Lys170Asn
XM_017018204.1:c.-97G>T	XP_016873693.1:n.-97G>T
XM_024448668.1:c.312G>T	XP_024304436.1:p.Lys104Asn
XR_001747945.2:n.2085G>T
XR_001747946.2:n.2019G>T
XR_002957189.1:n.2085G>T
NM_000352.6:c.1947G>T MANE Select	NP_000343.2:p.Lys649Asn
NM_001287174.2:c.1947G>T	NP_001274103.1:p.Lys649Asn
NM_001351295.2:c.2013G>T	NP_001338224.1:p.Lys671Asn
NM_001351296.2:c.1944G>T	NP_001338225.1:p.Lys648Asn
NM_001351297.2:c.1944G>T	NP_001338226.1:p.Lys648Asn
NR_147094.2:n.2013G>T
NM_001287174.3:c.1947G>T	NP_001274103.1:p.Lys649Asn