Canonical Allele Identifier: CA379815091

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17449848G>T (hg19) ; chr11:g.17428301G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17428301G>T , CM000673.2:g.17428301G>T	GRCh38
NC_000011.9:g.17449848G>T , CM000673.1:g.17449848G>T	GRCh37
NC_000011.8:g.17406424G>T	NCBI36
NG_008867.1:g.53602C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.1697C>A
ENST00000529967.6:n.287C>A
ENST00000642611.2:n.2094C>A
ENST00000682051.1:n.2041C>A
ENST00000682110.1:n.2094C>A
ENST00000682140.1:c.2025C>A	ENSP00000507829.1:p.Asn675Lys
ENST00000682185.1:n.3333C>A
ENST00000682204.1:c.*166C>A	ENSP00000507094.1:n.*166C>A
ENST00000682215.1:n.2094C>A
ENST00000682288.1:c.*456C>A	ENSP00000507506.1:n.*456C>A
ENST00000682442.1:n.2215C>A
ENST00000682528.1:n.2094C>A
ENST00000682673.1:n.2041C>A
ENST00000682805.1:n.2094C>A
ENST00000682965.1:c.2025C>A	ENSP00000508229.1:p.Asn675Lys
ENST00000683093.1:n.2196C>A
ENST00000683136.1:c.2025C>A	ENSP00000507768.1:p.Asn675Lys
ENST00000683153.1:n.2253C>A
ENST00000683253.1:n.3110C>A
ENST00000683365.1:n.2196C>A
ENST00000683377.1:n.2094C>A
ENST00000683456.1:c.2025C>A	ENSP00000508318.1:p.Asn675Lys
ENST00000683522.1:n.2094C>A
ENST00000683562.1:c.*197C>A	ENSP00000508265.1:n.*197C>A
ENST00000683693.1:n.2094C>A
ENST00000683725.1:c.2028C>A	ENSP00000507496.1:p.Asn676Lys
ENST00000684010.1:n.2094C>A
ENST00000684157.1:n.2094C>A
ENST00000684253.1:n.2000C>A
ENST00000684288.1:c.*197C>A	ENSP00000507143.1:n.*197C>A
ENST00000684313.1:n.1724-11339C>A
ENST00000684332.1:n.2167C>A
ENST00000684371.1:n.2200C>A
ENST00000684404.1:n.2094C>A
ENST00000684442.1:n.2094C>A
ENST00000684555.1:c.*237C>A	ENSP00000507705.1:n.*237C>A
ENST00000684571.1:c.1869C>A	ENSP00000506935.1:p.Asn623Lys
ENST00000684593.1:c.*1733C>A	ENSP00000507005.1:n.*1733C>A
ENST00000684711.1:c.*424C>A	ENSP00000506841.1:n.*424C>A
ENST00000302539.9:c.2028C>A	ENSP00000303960.4:p.Asn676Lys
ENST00000389817.8:c.2028C>A MANE Select	ENSP00000374467.4:p.Asn676Lys
ENST00000532728.6:c.1609C>A
ENST00000642271.1:c.2025C>A	ENSP00000493749.1:p.Asn675Lys
ENST00000642579.1:c.109C>A
ENST00000642611.1:n.1979C>A
ENST00000642902.1:c.1863C>A
ENST00000643260.1:c.2025C>A	ENSP00000494450.1:p.Asn675Lys
ENST00000643562.1:c.*4C>A	ENSP00000496124.1:n.*4C>A
ENST00000644447.1:c.381C>A	ENSP00000496282.1:p.Asn127Lys
ENST00000644472.1:c.*389C>A	ENSP00000495378.1:n.*389C>A
ENST00000644484.1:c.*237C>A	ENSP00000493558.1:n.*237C>A
ENST00000644542.1:c.*1730C>A	ENSP00000495532.1:n.*1730C>A
ENST00000644649.1:c.1198C>A
ENST00000644675.1:c.*197C>A	ENSP00000494567.1:n.*197C>A
ENST00000644757.1:c.*330C>A	ENSP00000495085.1:n.*330C>A
ENST00000644772.1:c.2094C>A	ENSP00000494321.1:p.Asn698Lys
ENST00000645076.1:c.1280C>A
ENST00000645744.1:c.*389C>A	ENSP00000494564.1:n.*389C>A
ENST00000645760.1:c.2303C>A
ENST00000645884.1:c.2025C>A	ENSP00000495516.1:p.Asn675Lys
ENST00000646003.1:c.*166C>A	ENSP00000495259.1:n.*166C>A
ENST00000646207.1:c.*389C>A	ENSP00000495025.1:n.*389C>A
ENST00000646276.1:c.*298C>A	ENSP00000496070.1:n.*298C>A
ENST00000646592.1:c.1251C>A
ENST00000646902.1:c.2025C>A	ENSP00000494101.1:p.Asn675Lys
ENST00000646993.1:c.*424C>A	ENSP00000493720.1:n.*424C>A
ENST00000647013.1:c.2031C>A	ENSP00000496741.1:n.2031C>A
ENST00000647015.1:c.1776C>A	ENSP00000495389.1:p.Asn592Lys
ENST00000647086.1:c.*1755C>A	ENSP00000493677.1:n.*1755C>A
ENST00000647158.1:c.*166C>A	ENSP00000495744.1:n.*166C>A
ENST00000302539.8:c.2028C>A	ENSP00000303960.4:p.Asn676Lys
ENST00000389817.7:c.2028C>A	ENSP00000374467.3:p.Asn676Lys
ENST00000527905.5:c.1998C>A	ENSP00000431653.1:p.Asn666Lys
NM_000352.4:c.2028C>A	NP_000343.2:p.Asn676Lys
NM_001287174.1:c.2028C>A	NP_001274103.1:p.Asn676Lys
XM_011520331.1:c.2025C>A	XP_011518633.1:p.Asn675Lys
XM_011520332.1:c.2028C>A	XP_011518634.1:p.Asn676Lys
XM_011520333.1:c.525C>A	XP_011518635.1:p.Asn175Lys
XM_011520334.1:c.2028C>A	XP_011518636.1:p.Asn676Lys
XR_930890.1:n.2091C>A
XR_930891.1:n.2091C>A
XR_930892.1:n.2091C>A
XR_930893.1:n.2091C>A
NM_001351295.1:c.2094C>A	NP_001338224.1:p.Asn698Lys
NM_001351296.1:c.2025C>A	NP_001338225.1:p.Asn675Lys
NM_001351297.1:c.2025C>A	NP_001338226.1:p.Asn675Lys
NR_147094.1:n.2094C>A
XM_017018197.2:c.2094C>A	XP_016873686.1:p.Asn698Lys
XM_017018199.1:c.2091C>A	XP_016873688.1:p.Asn697Lys
XM_017018201.2:c.2094C>A	XP_016873690.1:p.Asn698Lys
XM_017018202.1:c.591C>A	XP_016873691.1:p.Asn197Lys
XM_017018204.1:c.-16C>A	XP_016873693.1:n.-16C>A
XM_024448668.1:c.393C>A	XP_024304436.1:p.Asn131Lys
XR_001747945.2:n.2166C>A
XR_001747946.2:n.2100C>A
XR_002957189.1:n.2166C>A
NM_000352.6:c.2028C>A MANE Select	NP_000343.2:p.Asn676Lys
NM_001287174.2:c.2028C>A	NP_001274103.1:p.Asn676Lys
NM_001351295.2:c.2094C>A	NP_001338224.1:p.Asn698Lys
NM_001351296.2:c.2025C>A	NP_001338225.1:p.Asn675Lys
NM_001351297.2:c.2025C>A	NP_001338226.1:p.Asn675Lys
NR_147094.2:n.2094C>A
NM_001287174.3:c.2028C>A	NP_001274103.1:p.Asn676Lys