Canonical Allele Identifier: CA368061257

Gene: ABCB4

Linked Data

• dbSNP Id: rs1809053639
• gnomAD v3: 7-87417380-T-G
• gnomAD v4: 7-87417380-T-G
• MyVariant Identifiers: chr7:g.87046696T>G (hg19) ; chr7:g.87417380T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87417380T>G , CM000669.2:g.87417380T>G	GRCh38
NC_000007.13:g.87046696T>G , CM000669.1:g.87046696T>G	GRCh37
NC_000007.12:g.86884632T>G	NCBI36
NG_007118.1:g.68053A>C
NG_007118.2:g.68053A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000359206.8:c.2614A>C	ENSP00000352135.3:p.Ile872Leu
ENST00000649586.2:c.2614A>C MANE Select	ENSP00000496956.2:p.Ile872Leu
ENST00000265723.8:c.2614A>C	ENSP00000265723.4:p.Ile872Leu
ENST00000358400.7:c.2614A>C	ENSP00000351172.3:p.Ile872Leu
ENST00000359206.7:c.2614A>C	ENSP00000352135.3:p.Ile872Leu
ENST00000453593.5:c.2614A>C	ENSP00000392983.1:p.Ile872Leu
NM_000443.3:c.2614A>C	NP_000434.1:p.Ile872Leu
NM_018849.2:c.2614A>C	NP_061337.1:p.Ile872Leu
NM_018850.2:c.2614A>C	NP_061338.1:p.Ile872Leu
XM_011516308.1:c.2614A>C	XP_011514610.1:p.Ile872Leu
XM_011516309.1:c.2614A>C	XP_011514611.1:p.Ile872Leu
XM_011516310.1:c.2509A>C	XP_011514612.1:p.Ile837Leu
XM_011516311.1:c.2614A>C	XP_011514613.1:p.Ile872Leu
XM_011516312.1:c.2614A>C	XP_011514614.1:p.Ile872Leu
XM_011516313.1:c.2614A>C	XP_011514615.1:p.Ile872Leu
XM_011516314.1:c.2635A>C	XP_011514616.1:p.Ile879Leu
XM_011516315.1:c.1954A>C	XP_011514617.1:p.Ile652Leu
XR_927478.1:n.2710A>C
XM_011516308.3:c.2884A>C	XP_011514610.3:p.Ile962Leu
XM_011516309.3:c.2884A>C	XP_011514611.3:p.Ile962Leu
XM_011516310.3:c.2779A>C	XP_011514612.3:p.Ile927Leu
XM_011516311.3:c.2884A>C	XP_011514613.3:p.Ile962Leu
XM_011516312.3:c.2884A>C	XP_011514614.3:p.Ile962Leu
XM_011516313.3:c.2884A>C	XP_011514615.2:p.Ile962Leu
XM_011516315.3:c.1954A>C	XP_011514617.2:p.Ile652Leu
XM_017012323.2:c.2614A>C	XP_016867812.1:p.Ile872Leu
XR_001744809.2:n.3385A>C
NM_000443.4:c.2614A>C MANE Select	NP_000434.1:p.Ile872Leu
NM_018849.3:c.2614A>C	NP_061337.1:p.Ile872Leu
NM_018850.3:c.2614A>C	NP_061338.1:p.Ile872Leu