Canonical Allele Identifier: CA379817170

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17452499A>G (hg19) ; chr11:g.17430952A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17430952A>G , CM000673.2:g.17430952A>G	GRCh38
NC_000011.9:g.17452499A>G , CM000673.1:g.17452499A>G	GRCh37
NC_000011.8:g.17409075A>G	NCBI36
NG_008867.1:g.50951T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000524561.2:n.1316T>C
ENST00000526002.2:n.1706T>C
ENST00000528202.6:n.1818T>C
ENST00000642611.2:n.1745T>C
ENST00000682051.1:n.1692T>C
ENST00000682110.1:n.1745T>C
ENST00000682140.1:c.1676T>C	ENSP00000507829.1:p.Val559Ala
ENST00000682185.1:n.2984T>C
ENST00000682204.1:c.1668+1252T>C	ENSP00000507094.1:n.1668+1252T>C
ENST00000682215.1:n.1745T>C
ENST00000682288.1:c.*75T>C	ENSP00000507506.1:n.*75T>C
ENST00000682442.1:n.1866T>C
ENST00000682528.1:n.1745T>C
ENST00000682673.1:n.1692T>C
ENST00000682805.1:n.1745T>C
ENST00000682965.1:c.1676T>C	ENSP00000508229.1:p.Val559Ala
ENST00000683093.1:n.1847T>C
ENST00000683136.1:c.1676T>C	ENSP00000507768.1:p.Val559Ala
ENST00000683153.1:n.1745T>C
ENST00000683253.1:n.2761T>C
ENST00000683365.1:n.1847T>C
ENST00000683377.1:n.1745T>C
ENST00000683456.1:c.1676T>C	ENSP00000508318.1:p.Val559Ala
ENST00000683522.1:n.1745T>C
ENST00000683531.1:n.1748T>C
ENST00000683562.1:c.1679T>C	ENSP00000508265.1:p.Val560Ala
ENST00000683693.1:n.1745T>C
ENST00000683725.1:c.1679T>C	ENSP00000507496.1:p.Val560Ala
ENST00000684010.1:n.1745T>C
ENST00000684157.1:n.1745T>C
ENST00000684253.1:n.1789+1252T>C
ENST00000684288.1:c.1679T>C	ENSP00000507143.1:p.Val560Ala
ENST00000684313.1:n.1723+11768T>C
ENST00000684332.1:n.1818T>C
ENST00000684371.1:n.1692T>C
ENST00000684404.1:n.1745T>C
ENST00000684442.1:n.1745T>C
ENST00000684555.1:c.1671+1252T>C	ENSP00000507705.1:n.1671+1252T>C
ENST00000684571.1:c.1520T>C	ENSP00000506935.1:p.Val507Ala
ENST00000684593.1:c.*1384T>C	ENSP00000507005.1:n.*1384T>C
ENST00000684711.1:c.*75T>C	ENSP00000506841.1:n.*75T>C
ENST00000302539.9:c.1679T>C	ENSP00000303960.4:p.Val560Ala
ENST00000389817.8:c.1679T>C MANE Select	ENSP00000374467.4:p.Val560Ala
ENST00000532728.6:c.1398+1252T>C
ENST00000635881.1:n.1707T>C
ENST00000642271.1:c.1676T>C	ENSP00000493749.1:p.Val559Ala
ENST00000642611.1:n.1630T>C
ENST00000642902.1:c.1652+1252T>C
ENST00000643260.1:c.1676T>C	ENSP00000494450.1:p.Val559Ala
ENST00000643562.1:c.1679T>C	ENSP00000496124.1:p.Val560Ala
ENST00000644447.1:c.32T>C	ENSP00000496282.1:p.Val11Ala
ENST00000644472.1:c.*40T>C	ENSP00000495378.1:n.*40T>C
ENST00000644484.1:c.1668+1252T>C	ENSP00000493558.1:n.1668+1252T>C
ENST00000644542.1:c.*1381T>C	ENSP00000495532.1:n.*1381T>C
ENST00000644649.1:c.849T>C
ENST00000644675.1:c.1676T>C	ENSP00000494567.1:p.Val559Ala
ENST00000644757.1:c.*87+1252T>C	ENSP00000495085.1:n.*87+1252T>C
ENST00000644772.1:c.1679T>C	ENSP00000494321.1:p.Val560Ala
ENST00000645076.1:c.961T>C
ENST00000645744.1:c.*40T>C	ENSP00000494564.1:n.*40T>C
ENST00000645760.1:c.1954T>C
ENST00000645884.1:c.1676T>C	ENSP00000495516.1:p.Val559Ala
ENST00000646003.1:c.1668+1252T>C	ENSP00000495259.1:n.1668+1252T>C
ENST00000646207.1:c.*40T>C	ENSP00000495025.1:n.*40T>C
ENST00000646276.1:c.*87+1252T>C	ENSP00000496070.1:n.*87+1252T>C
ENST00000646592.1:c.882-2282T>C
ENST00000646902.1:c.1676T>C	ENSP00000494101.1:p.Val559Ala
ENST00000646993.1:c.*75T>C	ENSP00000493720.1:n.*75T>C
ENST00000647013.1:c.1650T>C	ENSP00000496741.1:n.1650T>C
ENST00000647015.1:c.1671+1252T>C	ENSP00000495389.1:n.1671+1252T>C
ENST00000647086.1:c.1676T>C	ENSP00000493677.1:p.Val559Ala
ENST00000647158.1:c.1668+1252T>C	ENSP00000495744.1:n.1668+1252T>C
ENST00000302539.8:c.1679T>C	ENSP00000303960.4:p.Val560Ala
ENST00000389817.7:c.1679T>C	ENSP00000374467.3:p.Val560Ala
ENST00000526002.1:n.468T>C
ENST00000527905.5:c.1679T>C	ENSP00000431653.1:p.Val560Ala
ENST00000528202.5:n.194T>C
ENST00000532728.5:n.1710T>C
NM_000352.4:c.1679T>C	NP_000343.2:p.Val560Ala
NM_001287174.1:c.1679T>C	NP_001274103.1:p.Val560Ala
XM_011520331.1:c.1676T>C	XP_011518633.1:p.Val559Ala
XM_011520332.1:c.1679T>C	XP_011518634.1:p.Val560Ala
XM_011520333.1:c.176T>C	XP_011518635.1:p.Val59Ala
XM_011520334.1:c.1679T>C	XP_011518636.1:p.Val560Ala
XR_930890.1:n.1742T>C
XR_930891.1:n.1742T>C
XR_930892.1:n.1742T>C
XR_930893.1:n.1742T>C
NM_001351295.1:c.1679T>C	NP_001338224.1:p.Val560Ala
NM_001351296.1:c.1676T>C	NP_001338225.1:p.Val559Ala
NM_001351297.1:c.1676T>C	NP_001338226.1:p.Val559Ala
NR_147094.1:n.1745T>C
XM_017018197.2:c.1679T>C	XP_016873686.1:p.Val560Ala
XM_017018199.1:c.1676T>C	XP_016873688.1:p.Val559Ala
XM_017018201.2:c.1679T>C	XP_016873690.1:p.Val560Ala
XM_017018202.1:c.176T>C	XP_016873691.1:p.Val59Ala
XM_017018204.1:c.-365T>C	XP_016873693.1:n.-365T>C
XM_024448668.1:c.44T>C	XP_024304436.1:p.Val15Ala
XR_001747945.2:n.1751T>C
XR_001747946.2:n.1751T>C
XR_002957189.1:n.1751T>C
NM_000352.6:c.1679T>C MANE Select	NP_000343.2:p.Val560Ala
NM_001287174.2:c.1679T>C	NP_001274103.1:p.Val560Ala
NM_001351295.2:c.1679T>C	NP_001338224.1:p.Val560Ala
NM_001351296.2:c.1676T>C	NP_001338225.1:p.Val559Ala
NM_001351297.2:c.1676T>C	NP_001338226.1:p.Val559Ala
NR_147094.2:n.1745T>C
NM_001287174.3:c.1679T>C	NP_001274103.1:p.Val560Ala