Canonical Allele Identifier: CA473516555

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17428613-G-A
• MyVariant Identifiers: chr11:g.17450160G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17428613G>A , CM000673.2:g.17428613G>A	GRCh38
NC_000011.9:g.17450160G>A , CM000673.1:g.17450160G>A	GRCh37
NC_000011.8:g.17406736G>A	NCBI36
NG_008867.1:g.53290C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000524561.2:n.1544C>T
ENST00000642611.2:n.1941C>T
ENST00000682051.1:n.1888C>T
ENST00000682110.1:n.1941C>T
ENST00000682140.1:c.1872C>T	ENSP00000507829.1:p.Ala624=
ENST00000682185.1:n.3180C>T
ENST00000682204.1:c.*13C>T	ENSP00000507094.1:n.*13C>T
ENST00000682215.1:n.1941C>T
ENST00000682288.1:c.*303C>T	ENSP00000507506.1:n.*303C>T
ENST00000682442.1:n.2062C>T
ENST00000682528.1:n.1941C>T
ENST00000682673.1:n.1888C>T
ENST00000682805.1:n.1941C>T
ENST00000682965.1:c.1872C>T	ENSP00000508229.1:p.Ala624=
ENST00000683093.1:n.2043C>T
ENST00000683136.1:c.1872C>T	ENSP00000507768.1:p.Ala624=
ENST00000683153.1:n.1941C>T
ENST00000683253.1:n.2957C>T
ENST00000683365.1:n.2043C>T
ENST00000683377.1:n.1941C>T
ENST00000683456.1:c.1872C>T	ENSP00000508318.1:p.Ala624=
ENST00000683522.1:n.1941C>T
ENST00000683562.1:c.*44C>T	ENSP00000508265.1:n.*44C>T
ENST00000683693.1:n.1941C>T
ENST00000683725.1:c.1875C>T	ENSP00000507496.1:p.Ala625=
ENST00000684010.1:n.1941C>T
ENST00000684157.1:n.1941C>T
ENST00000684253.1:n.1847C>T
ENST00000684288.1:c.*44C>T	ENSP00000507143.1:n.*44C>T
ENST00000684313.1:n.1724-11651C>T
ENST00000684332.1:n.2014C>T
ENST00000684371.1:n.1888C>T
ENST00000684404.1:n.1941C>T
ENST00000684442.1:n.1941C>T
ENST00000684555.1:c.*84C>T	ENSP00000507705.1:n.*84C>T
ENST00000684571.1:c.1716C>T	ENSP00000506935.1:p.Ala572=
ENST00000684593.1:c.*1580C>T	ENSP00000507005.1:n.*1580C>T
ENST00000684711.1:c.*271C>T	ENSP00000506841.1:n.*271C>T
ENST00000302539.9:c.1875C>T	ENSP00000303960.4:p.Ala625=
ENST00000389817.8:c.1875C>T MANE Select	ENSP00000374467.4:p.Ala625=
ENST00000532728.6:c.1456C>T
ENST00000642271.1:c.1872C>T	ENSP00000493749.1:p.Ala624=
ENST00000642611.1:n.1826C>T
ENST00000642902.1:c.1710C>T
ENST00000643260.1:c.1872C>T	ENSP00000494450.1:p.Ala624=
ENST00000643562.1:c.1875C>T	ENSP00000496124.1:p.Ala625=
ENST00000644447.1:c.228C>T	ENSP00000496282.1:p.Ala76=
ENST00000644472.1:c.*236C>T	ENSP00000495378.1:n.*236C>T
ENST00000644484.1:c.*84C>T	ENSP00000493558.1:n.*84C>T
ENST00000644542.1:c.*1577C>T	ENSP00000495532.1:n.*1577C>T
ENST00000644649.1:c.1045C>T
ENST00000644675.1:c.*44C>T	ENSP00000494567.1:n.*44C>T
ENST00000644757.1:c.*177C>T	ENSP00000495085.1:n.*177C>T
ENST00000644772.1:c.1875C>T	ENSP00000494321.1:p.Ala625=
ENST00000645076.1:c.1127C>T
ENST00000645744.1:c.*236C>T	ENSP00000494564.1:n.*236C>T
ENST00000645760.1:c.2150C>T
ENST00000645884.1:c.1872C>T	ENSP00000495516.1:p.Ala624=
ENST00000646003.1:c.*13C>T	ENSP00000495259.1:n.*13C>T
ENST00000646207.1:c.*236C>T	ENSP00000495025.1:n.*236C>T
ENST00000646276.1:c.*145C>T	ENSP00000496070.1:n.*145C>T
ENST00000646592.1:c.939C>T
ENST00000646902.1:c.1872C>T	ENSP00000494101.1:p.Ala624=
ENST00000646993.1:c.*271C>T	ENSP00000493720.1:n.*271C>T
ENST00000647013.1:c.1878C>T	ENSP00000496741.1:n.1878C>T
ENST00000647015.1:c.1672-208C>T	ENSP00000495389.1:n.1672-208C>T
ENST00000647086.1:c.*1602C>T	ENSP00000493677.1:n.*1602C>T
ENST00000647158.1:c.*13C>T	ENSP00000495744.1:n.*13C>T
ENST00000302539.8:c.1875C>T	ENSP00000303960.4:p.Ala625=
ENST00000389817.7:c.1875C>T	ENSP00000374467.3:p.Ala625=
ENST00000527905.5:c.1845C>T	ENSP00000431653.1:p.Ala615=
NM_000352.4:c.1875C>T	NP_000343.2:p.Ala625=
NM_001287174.1:c.1875C>T	NP_001274103.1:p.Ala625=
XM_011520331.1:c.1872C>T	XP_011518633.1:p.Ala624=
XM_011520332.1:c.1875C>T	XP_011518634.1:p.Ala625=
XM_011520333.1:c.372C>T	XP_011518635.1:p.Ala124=
XM_011520334.1:c.1875C>T	XP_011518636.1:p.Ala625=
XR_930890.1:n.1938C>T
XR_930891.1:n.1938C>T
XR_930892.1:n.1938C>T
XR_930893.1:n.1938C>T
NM_001351295.1:c.1875C>T	NP_001338224.1:p.Ala625=
NM_001351296.1:c.1872C>T	NP_001338225.1:p.Ala624=
NM_001351297.1:c.1872C>T	NP_001338226.1:p.Ala624=
NR_147094.1:n.1941C>T
XM_017018197.2:c.1875C>T	XP_016873686.1:p.Ala625=
XM_017018199.1:c.1872C>T	XP_016873688.1:p.Ala624=
XM_017018201.2:c.1875C>T	XP_016873690.1:p.Ala625=
XM_017018202.1:c.372C>T	XP_016873691.1:p.Ala124=
XM_017018204.1:c.-169C>T	XP_016873693.1:n.-169C>T
XM_024448668.1:c.240C>T	XP_024304436.1:p.Ala80=
XR_001747945.2:n.1947C>T
XR_001747946.2:n.1947C>T
XR_002957189.1:n.1947C>T
NM_000352.6:c.1875C>T MANE Select	NP_000343.2:p.Ala625=
NM_001287174.2:c.1875C>T	NP_001274103.1:p.Ala625=
NM_001351295.2:c.1875C>T	NP_001338224.1:p.Ala625=
NM_001351296.2:c.1872C>T	NP_001338225.1:p.Ala624=
NM_001351297.2:c.1872C>T	NP_001338226.1:p.Ala624=
NR_147094.2:n.1941C>T
NM_001287174.3:c.1875C>T	NP_001274103.1:p.Ala625=