Canonical Allele Identifier: CA379802790

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17428260C>A (hg19) ; chr11:g.17406713C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17406713C>A , CM000673.2:g.17406713C>A	GRCh38
NC_000011.9:g.17428260C>A , CM000673.1:g.17428260C>A	GRCh37
NC_000011.8:g.17384836C>A	NCBI36
NG_008867.1:g.75190G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2807G>T
ENST00000529967.6:n.1577G>T
ENST00000532220.2:n.970G>T
ENST00000642611.2:n.3307G>T
ENST00000645004.2:n.737G>T
ENST00000682051.1:n.3254G>T
ENST00000682110.1:n.3307G>T
ENST00000682140.1:c.3235G>T	ENSP00000507829.1:p.Val1079Phe
ENST00000682185.1:n.4543G>T
ENST00000682204.1:c.*1376G>T	ENSP00000507094.1:n.*1376G>T
ENST00000682215.1:n.3304G>T
ENST00000682288.1:c.*1669G>T	ENSP00000507506.1:n.*1669G>T
ENST00000682442.1:n.3527G>T
ENST00000682528.1:n.3384G>T
ENST00000682673.1:n.3251G>T
ENST00000682805.1:n.3304G>T
ENST00000682965.1:c.3235G>T	ENSP00000508229.1:p.Val1079Phe
ENST00000683093.1:n.3406G>T
ENST00000683136.1:c.3235G>T	ENSP00000507768.1:p.Val1079Phe
ENST00000683153.1:n.3463G>T
ENST00000683365.1:n.3409G>T
ENST00000683377.1:n.3307G>T
ENST00000683456.1:c.*375G>T	ENSP00000508318.1:n.*375G>T
ENST00000683522.1:n.3307G>T
ENST00000683562.1:c.*1407G>T	ENSP00000508265.1:n.*1407G>T
ENST00000683693.1:n.3384G>T
ENST00000683725.1:c.3238G>T	ENSP00000507496.1:p.Val1080Phe
ENST00000684010.1:n.3302G>T
ENST00000684157.1:n.3307G>T
ENST00000684253.1:n.3210G>T
ENST00000684288.1:c.*1410G>T	ENSP00000507143.1:n.*1410G>T
ENST00000684313.1:n.2739G>T
ENST00000684332.1:n.3380G>T
ENST00000684371.1:n.3413G>T
ENST00000684404.1:n.3350G>T
ENST00000684442.1:n.3307G>T
ENST00000684555.1:c.*1450G>T	ENSP00000507705.1:n.*1450G>T
ENST00000684571.1:c.3079G>T	ENSP00000506935.1:p.Val1027Phe
ENST00000684593.1:c.*2943G>T	ENSP00000507005.1:n.*2943G>T
ENST00000684711.1:c.*1634G>T	ENSP00000506841.1:n.*1634G>T
ENST00000302539.9:c.3241G>T	ENSP00000303960.4:p.Val1081Phe
ENST00000389817.8:c.3238G>T MANE Select	ENSP00000374467.4:p.Val1080Phe
ENST00000642271.1:c.3235G>T	ENSP00000493749.1:p.Val1079Phe
ENST00000642579.1:c.1322G>T
ENST00000642611.1:n.3192G>T
ENST00000642902.1:c.3020G>T
ENST00000643260.1:c.3238G>T	ENSP00000494450.1:p.Val1080Phe
ENST00000643562.1:c.*1214G>T	ENSP00000496124.1:n.*1214G>T
ENST00000643925.1:c.1362G>T
ENST00000644447.1:c.1594G>T	ENSP00000496282.1:p.Val532Phe
ENST00000644484.1:c.*1493G>T	ENSP00000493558.1:n.*1493G>T
ENST00000644542.1:c.*3042G>T	ENSP00000495532.1:n.*3042G>T
ENST00000644675.1:c.*1410G>T	ENSP00000494567.1:n.*1410G>T
ENST00000644757.1:c.*1523G>T	ENSP00000495085.1:n.*1523G>T
ENST00000644772.1:c.3304G>T	ENSP00000494321.1:p.Val1102Phe
ENST00000645004.1:n.377G>T
ENST00000645076.1:c.2437G>T
ENST00000645417.1:c.404G>T
ENST00000645744.1:c.*1502G>T	ENSP00000494564.1:n.*1502G>T
ENST00000645760.1:c.3513G>T
ENST00000645884.1:c.*375G>T	ENSP00000495516.1:n.*375G>T
ENST00000646003.1:c.*1194G>T	ENSP00000495259.1:n.*1194G>T
ENST00000646207.1:c.*1705G>T	ENSP00000495025.1:n.*1705G>T
ENST00000646276.1:c.*1511G>T	ENSP00000496070.1:n.*1511G>T
ENST00000646592.1:c.2544G>T
ENST00000646902.1:c.3235G>T	ENSP00000494101.1:p.Val1079Phe
ENST00000646993.1:c.*1634G>T	ENSP00000493720.1:n.*1634G>T
ENST00000647013.1:c.3244G>T	ENSP00000496741.1:n.3244G>T
ENST00000647015.1:c.2989G>T	ENSP00000495389.1:p.Val997Phe
ENST00000647086.1:c.*2968G>T	ENSP00000493677.1:n.*2968G>T
ENST00000647158.1:c.*1379G>T	ENSP00000495744.1:n.*1379G>T
ENST00000302539.8:c.3241G>T	ENSP00000303960.4:p.Val1081Phe
ENST00000389817.7:c.3238G>T	ENSP00000374467.3:p.Val1080Phe
ENST00000524561.1:n.370G>T
ENST00000526921.5:n.922G>T
ENST00000527905.5:c.*114G>T	ENSP00000431653.1:n.*114G>T
NM_000352.4:c.3238G>T	NP_000343.2:p.Val1080Phe
NM_001287174.1:c.3241G>T	NP_001274103.1:p.Val1081Phe
XM_011520331.1:c.3238G>T	XP_011518633.1:p.Val1080Phe
XM_011520332.1:c.3241G>T	XP_011518634.1:p.Val1081Phe
XM_011520333.1:c.1738G>T	XP_011518635.1:p.Val580Phe
XR_930890.1:n.3304G>T
XR_930891.1:n.3304G>T
XR_930892.1:n.3204G>T
XR_930893.1:n.3201G>T
NM_001351295.1:c.3304G>T	NP_001338224.1:p.Val1102Phe
NM_001351296.1:c.3238G>T	NP_001338225.1:p.Val1080Phe
NM_001351297.1:c.3235G>T	NP_001338226.1:p.Val1079Phe
NR_147094.1:n.3387G>T
XM_017018197.2:c.3307G>T	XP_016873686.1:p.Val1103Phe
XM_017018199.1:c.3304G>T	XP_016873688.1:p.Val1102Phe
XM_017018201.2:c.3307G>T	XP_016873690.1:p.Val1103Phe
XM_017018202.1:c.1804G>T	XP_016873691.1:p.Val602Phe
XM_017018204.1:c.1195G>T	XP_016873693.1:p.Val399Phe
XM_024448668.1:c.1606G>T	XP_024304436.1:p.Val536Phe
XR_001747945.2:n.3379G>T
XR_001747946.2:n.3310G>T
XR_002957189.1:n.3459G>T
NM_000352.6:c.3238G>T MANE Select	NP_000343.2:p.Val1080Phe
NM_001287174.2:c.3241G>T	NP_001274103.1:p.Val1081Phe
NM_001351295.2:c.3304G>T	NP_001338224.1:p.Val1102Phe
NM_001351296.2:c.3238G>T	NP_001338225.1:p.Val1080Phe
NM_001351297.2:c.3235G>T	NP_001338226.1:p.Val1079Phe
NR_147094.2:n.3387G>T
NM_001287174.3:c.3241G>T	NP_001274103.1:p.Val1081Phe