Canonical Allele Identifier: CA368061380

Gene: ABCB4

Linked Data

• MyVariant Identifiers: chr7:g.87046737A>C (hg19) ; chr7:g.87417421A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87417421A>C , CM000669.2:g.87417421A>C	GRCh38
NC_000007.13:g.87046737A>C , CM000669.1:g.87046737A>C	GRCh37
NC_000007.12:g.86884673A>C	NCBI36
NG_007118.1:g.68012T>G
NG_007118.2:g.68012T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359206.8:c.2573T>G	ENSP00000352135.3:p.Leu858Arg
ENST00000649586.2:c.2573T>G MANE Select	ENSP00000496956.2:p.Leu858Arg
ENST00000265723.8:c.2573T>G	ENSP00000265723.4:p.Leu858Arg
ENST00000358400.7:c.2573T>G	ENSP00000351172.3:p.Leu858Arg
ENST00000359206.7:c.2573T>G	ENSP00000352135.3:p.Leu858Arg
ENST00000453593.5:c.2573T>G	ENSP00000392983.1:p.Leu858Arg
NM_000443.3:c.2573T>G	NP_000434.1:p.Leu858Arg
NM_018849.2:c.2573T>G	NP_061337.1:p.Leu858Arg
NM_018850.2:c.2573T>G	NP_061338.1:p.Leu858Arg
XM_011516308.1:c.2573T>G	XP_011514610.1:p.Leu858Arg
XM_011516309.1:c.2573T>G	XP_011514611.1:p.Leu858Arg
XM_011516310.1:c.2468T>G	XP_011514612.1:p.Leu823Arg
XM_011516311.1:c.2573T>G	XP_011514613.1:p.Leu858Arg
XM_011516312.1:c.2573T>G	XP_011514614.1:p.Leu858Arg
XM_011516313.1:c.2573T>G	XP_011514615.1:p.Leu858Arg
XM_011516314.1:c.2594T>G	XP_011514616.1:p.Leu865Arg
XM_011516315.1:c.1913T>G	XP_011514617.1:p.Leu638Arg
XR_927478.1:n.2669T>G
XM_011516308.3:c.2843T>G	XP_011514610.3:p.Leu948Arg
XM_011516309.3:c.2843T>G	XP_011514611.3:p.Leu948Arg
XM_011516310.3:c.2738T>G	XP_011514612.3:p.Leu913Arg
XM_011516311.3:c.2843T>G	XP_011514613.3:p.Leu948Arg
XM_011516312.3:c.2843T>G	XP_011514614.3:p.Leu948Arg
XM_011516313.3:c.2843T>G	XP_011514615.2:p.Leu948Arg
XM_011516315.3:c.1913T>G	XP_011514617.2:p.Leu638Arg
XM_017012323.2:c.2573T>G	XP_016867812.1:p.Leu858Arg
XR_001744809.2:n.3344T>G
NM_000443.4:c.2573T>G MANE Select	NP_000434.1:p.Leu858Arg
NM_018849.3:c.2573T>G	NP_061337.1:p.Leu858Arg
NM_018850.3:c.2573T>G	NP_061338.1:p.Leu858Arg