Canonical Allele Identifier: CA473302836

Gene: ABCC8

Linked Data

• ClinVar Variation Id: 1570386
• ClinVar RCV Id: RCV002215330
• dbSNP Id: rs2133549120
• MyVariant Identifiers: chr11:g.17452404G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17430857G>A , CM000673.2:g.17430857G>A	GRCh38
NC_000011.9:g.17452404G>A , CM000673.1:g.17452404G>A	GRCh37
NC_000011.8:g.17408980G>A	NCBI36
NG_008867.1:g.51046C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000524561.2:n.1411C>T
ENST00000526002.2:n.1801C>T
ENST00000528202.6:n.1913C>T
ENST00000642611.2:n.1840C>T
ENST00000682051.1:n.1787C>T
ENST00000682110.1:n.1840C>T
ENST00000682140.1:c.1771C>T	ENSP00000507829.1:p.Leu591=
ENST00000682185.1:n.3079C>T
ENST00000682204.1:c.1668+1347C>T	ENSP00000507094.1:n.1668+1347C>T
ENST00000682215.1:n.1840C>T
ENST00000682288.1:c.*170C>T	ENSP00000507506.1:n.*170C>T
ENST00000682442.1:n.1961C>T
ENST00000682528.1:n.1840C>T
ENST00000682673.1:n.1787C>T
ENST00000682805.1:n.1840C>T
ENST00000682965.1:c.1771C>T	ENSP00000508229.1:p.Leu591=
ENST00000683093.1:n.1942C>T
ENST00000683136.1:c.1771C>T	ENSP00000507768.1:p.Leu591=
ENST00000683153.1:n.1840C>T
ENST00000683253.1:n.2856C>T
ENST00000683365.1:n.1942C>T
ENST00000683377.1:n.1840C>T
ENST00000683456.1:c.1771C>T	ENSP00000508318.1:p.Leu591=
ENST00000683522.1:n.1840C>T
ENST00000683531.1:n.1843C>T
ENST00000683562.1:c.1774C>T	ENSP00000508265.1:p.Leu592=
ENST00000683693.1:n.1840C>T
ENST00000683725.1:c.1774C>T	ENSP00000507496.1:p.Leu592=
ENST00000684010.1:n.1840C>T
ENST00000684157.1:n.1840C>T
ENST00000684253.1:n.1789+1347C>T
ENST00000684288.1:c.1774C>T	ENSP00000507143.1:p.Leu592=
ENST00000684313.1:n.1723+11863C>T
ENST00000684332.1:n.1913C>T
ENST00000684371.1:n.1787C>T
ENST00000684404.1:n.1840C>T
ENST00000684442.1:n.1840C>T
ENST00000684555.1:c.1671+1347C>T	ENSP00000507705.1:n.1671+1347C>T
ENST00000684571.1:c.1615C>T	ENSP00000506935.1:p.Leu539=
ENST00000684593.1:c.*1479C>T	ENSP00000507005.1:n.*1479C>T
ENST00000684711.1:c.*170C>T	ENSP00000506841.1:n.*170C>T
ENST00000302539.9:c.1774C>T	ENSP00000303960.4:p.Leu592=
ENST00000389817.8:c.1774C>T MANE Select	ENSP00000374467.4:p.Leu592=
ENST00000532728.6:c.1398+1347C>T
ENST00000635881.1:n.1802C>T
ENST00000642271.1:c.1771C>T	ENSP00000493749.1:p.Leu591=
ENST00000642611.1:n.1725C>T
ENST00000642902.1:c.1652+1347C>T
ENST00000643260.1:c.1771C>T	ENSP00000494450.1:p.Leu591=
ENST00000643562.1:c.1774C>T	ENSP00000496124.1:p.Leu592=
ENST00000644447.1:c.127C>T	ENSP00000496282.1:p.Leu43=
ENST00000644472.1:c.*135C>T	ENSP00000495378.1:n.*135C>T
ENST00000644484.1:c.1668+1347C>T	ENSP00000493558.1:n.1668+1347C>T
ENST00000644542.1:c.*1476C>T	ENSP00000495532.1:n.*1476C>T
ENST00000644649.1:c.944C>T
ENST00000644675.1:c.1771C>T	ENSP00000494567.1:p.Leu591=
ENST00000644757.1:c.*87+1347C>T	ENSP00000495085.1:n.*87+1347C>T
ENST00000644772.1:c.1774C>T	ENSP00000494321.1:p.Leu592=
ENST00000645076.1:c.1056C>T
ENST00000645744.1:c.*135C>T	ENSP00000494564.1:n.*135C>T
ENST00000645760.1:c.2049C>T
ENST00000645884.1:c.1771C>T	ENSP00000495516.1:p.Leu591=
ENST00000646003.1:c.1668+1347C>T	ENSP00000495259.1:n.1668+1347C>T
ENST00000646207.1:c.*135C>T	ENSP00000495025.1:n.*135C>T
ENST00000646276.1:c.*87+1347C>T	ENSP00000496070.1:n.*87+1347C>T
ENST00000646592.1:c.882-2187C>T
ENST00000646902.1:c.1771C>T	ENSP00000494101.1:p.Leu591=
ENST00000646993.1:c.*170C>T	ENSP00000493720.1:n.*170C>T
ENST00000647013.1:c.1745C>T	ENSP00000496741.1:n.1745C>T
ENST00000647015.1:c.1671+1347C>T	ENSP00000495389.1:n.1671+1347C>T
ENST00000647086.1:c.1771C>T	ENSP00000493677.1:p.Leu591=
ENST00000647158.1:c.1668+1347C>T	ENSP00000495744.1:n.1668+1347C>T
ENST00000302539.8:c.1774C>T	ENSP00000303960.4:p.Leu592=
ENST00000389817.7:c.1774C>T	ENSP00000374467.3:p.Leu592=
ENST00000526002.1:n.563C>T
ENST00000527905.5:c.1774C>T	ENSP00000431653.1:p.Leu592=
ENST00000528202.5:n.289C>T
ENST00000532728.5:n.1805C>T
NM_000352.4:c.1774C>T	NP_000343.2:p.Leu592=
NM_001287174.1:c.1774C>T	NP_001274103.1:p.Leu592=
XM_011520331.1:c.1771C>T	XP_011518633.1:p.Leu591=
XM_011520332.1:c.1774C>T	XP_011518634.1:p.Leu592=
XM_011520333.1:c.271C>T	XP_011518635.1:p.Leu91=
XM_011520334.1:c.1774C>T	XP_011518636.1:p.Leu592=
XR_930890.1:n.1837C>T
XR_930891.1:n.1837C>T
XR_930892.1:n.1837C>T
XR_930893.1:n.1837C>T
NM_001351295.1:c.1774C>T	NP_001338224.1:p.Leu592=
NM_001351296.1:c.1771C>T	NP_001338225.1:p.Leu591=
NM_001351297.1:c.1771C>T	NP_001338226.1:p.Leu591=
NR_147094.1:n.1840C>T
XM_017018197.2:c.1774C>T	XP_016873686.1:p.Leu592=
XM_017018199.1:c.1771C>T	XP_016873688.1:p.Leu591=
XM_017018201.2:c.1774C>T	XP_016873690.1:p.Leu592=
XM_017018202.1:c.271C>T	XP_016873691.1:p.Leu91=
XM_017018204.1:c.-270C>T	XP_016873693.1:n.-270C>T
XM_024448668.1:c.139C>T	XP_024304436.1:p.Leu47=
XR_001747945.2:n.1846C>T
XR_001747946.2:n.1846C>T
XR_002957189.1:n.1846C>T
NM_000352.6:c.1774C>T MANE Select	NP_000343.2:p.Leu592=
NM_001287174.2:c.1774C>T	NP_001274103.1:p.Leu592=
NM_001351295.2:c.1774C>T	NP_001338224.1:p.Leu592=
NM_001351296.2:c.1771C>T	NP_001338225.1:p.Leu591=
NM_001351297.2:c.1771C>T	NP_001338226.1:p.Leu591=
NR_147094.2:n.1840C>T
NM_001287174.3:c.1774C>T	NP_001274103.1:p.Leu592=