Canonical Allele Identifier: CA368056906

Gene: ABCB4

Linked Data

• MyVariant Identifiers: chr7:g.87031554A>T (hg19) ; chr7:g.87402238A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87402238A>T , CM000669.2:g.87402238A>T	GRCh38
NC_000007.13:g.87031554A>T , CM000669.1:g.87031554A>T	GRCh37
NC_000007.12:g.86869490A>T	NCBI36
NG_007118.1:g.83195T>A
NG_007118.2:g.83195T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359206.8:c.3698T>A	ENSP00000352135.3:p.Leu1233Gln
ENST00000649586.2:c.3698T>A MANE Select	ENSP00000496956.2:p.Leu1233Gln
ENST00000265723.8:c.3719T>A	ENSP00000265723.4:p.Leu1240Gln
ENST00000358400.7:c.3557T>A	ENSP00000351172.3:p.Leu1186Gln
ENST00000359206.7:c.3698T>A	ENSP00000352135.3:p.Leu1233Gln
ENST00000440025.1:c.132T>A
ENST00000453593.5:c.3557T>A	ENSP00000392983.1:p.Leu1186Gln
ENST00000467983.1:n.310T>A
NM_000443.3:c.3698T>A	NP_000434.1:p.Leu1233Gln
NM_018849.2:c.3719T>A	NP_061337.1:p.Leu1240Gln
NM_018850.2:c.3557T>A	NP_061338.1:p.Leu1186Gln
XM_011516308.1:c.3719T>A	XP_011514610.1:p.Leu1240Gln
XM_011516309.1:c.3698T>A	XP_011514611.1:p.Leu1233Gln
XM_011516310.1:c.3614T>A	XP_011514612.1:p.Leu1205Gln
XM_011516311.1:c.3590T>A	XP_011514613.1:p.Leu1197Gln
XM_011516312.1:c.3578T>A	XP_011514614.1:p.Leu1193Gln
XM_011516313.1:c.3557T>A	XP_011514615.1:p.Leu1186Gln
XM_011516314.1:c.3740T>A	XP_011514616.1:p.Leu1247Gln
XM_011516315.1:c.3059T>A	XP_011514617.1:p.Leu1020Gln
XM_011516308.3:c.3989T>A	XP_011514610.3:p.Leu1330Gln
XM_011516309.3:c.3968T>A	XP_011514611.3:p.Leu1323Gln
XM_011516310.3:c.3884T>A	XP_011514612.3:p.Leu1295Gln
XM_011516311.3:c.3860T>A	XP_011514613.3:p.Leu1287Gln
XM_011516312.3:c.3848T>A	XP_011514614.3:p.Leu1283Gln
XM_011516313.3:c.3827T>A	XP_011514615.2:p.Leu1276Gln
XM_011516315.3:c.3059T>A	XP_011514617.2:p.Leu1020Gln
XM_017012323.2:c.3719T>A	XP_016867812.1:p.Leu1240Gln
XR_001744809.2:n.4227T>A
NM_000443.4:c.3698T>A MANE Select	NP_000434.1:p.Leu1233Gln
NM_018849.3:c.3719T>A	NP_061337.1:p.Leu1240Gln
NM_018850.3:c.3557T>A	NP_061338.1:p.Leu1186Gln