Canonical Allele Identifier: CA368056809

Gene: ABCB4

Linked Data

• MyVariant Identifiers: chr7:g.87031531A>C (hg19) ; chr7:g.87402215A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87402215A>C , CM000669.2:g.87402215A>C	GRCh38
NC_000007.13:g.87031531A>C , CM000669.1:g.87031531A>C	GRCh37
NC_000007.12:g.86869467A>C	NCBI36
NG_007118.1:g.83218T>G
NG_007118.2:g.83218T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359206.8:c.3721T>G	ENSP00000352135.3:p.Leu1241Val
ENST00000649586.2:c.3721T>G MANE Select	ENSP00000496956.2:p.Leu1241Val
ENST00000265723.8:c.3742T>G	ENSP00000265723.4:p.Leu1248Val
ENST00000358400.7:c.3580T>G	ENSP00000351172.3:p.Leu1194Val
ENST00000359206.7:c.3721T>G	ENSP00000352135.3:p.Leu1241Val
ENST00000440025.1:c.155T>G
ENST00000453593.5:c.3580T>G	ENSP00000392983.1:p.Leu1194Val
ENST00000467983.1:n.333T>G
NM_000443.3:c.3721T>G	NP_000434.1:p.Leu1241Val
NM_018849.2:c.3742T>G	NP_061337.1:p.Leu1248Val
NM_018850.2:c.3580T>G	NP_061338.1:p.Leu1194Val
XM_011516308.1:c.3742T>G	XP_011514610.1:p.Leu1248Val
XM_011516309.1:c.3721T>G	XP_011514611.1:p.Leu1241Val
XM_011516310.1:c.3637T>G	XP_011514612.1:p.Leu1213Val
XM_011516311.1:c.3613T>G	XP_011514613.1:p.Leu1205Val
XM_011516312.1:c.3601T>G	XP_011514614.1:p.Leu1201Val
XM_011516313.1:c.3580T>G	XP_011514615.1:p.Leu1194Val
XM_011516314.1:c.3763T>G	XP_011514616.1:p.Leu1255Val
XM_011516315.1:c.3082T>G	XP_011514617.1:p.Leu1028Val
XM_011516308.3:c.4012T>G	XP_011514610.3:p.Leu1338Val
XM_011516309.3:c.3991T>G	XP_011514611.3:p.Leu1331Val
XM_011516310.3:c.3907T>G	XP_011514612.3:p.Leu1303Val
XM_011516311.3:c.3883T>G	XP_011514613.3:p.Leu1295Val
XM_011516312.3:c.3871T>G	XP_011514614.3:p.Leu1291Val
XM_011516313.3:c.3850T>G	XP_011514615.2:p.Leu1284Val
XM_011516315.3:c.3082T>G	XP_011514617.2:p.Leu1028Val
XM_017012323.2:c.3742T>G	XP_016867812.1:p.Leu1248Val
XR_001744809.2:n.4250T>G
NM_000443.4:c.3721T>G MANE Select	NP_000434.1:p.Leu1241Val
NM_018849.3:c.3742T>G	NP_061337.1:p.Leu1248Val
NM_018850.3:c.3580T>G	NP_061338.1:p.Leu1194Val