Canonical Allele Identifier: CA368054108

Gene: ABCB4

Linked Data

• dbSNP Id: rs1811854235
• gnomAD v4: 7-87452986-A-G
• MyVariant Identifiers: chr7:g.87082302A>G (hg19) ; chr7:g.87452986A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87452986A>G , CM000669.2:g.87452986A>G	GRCh38
NC_000007.13:g.87082302A>G , CM000669.1:g.87082302A>G	GRCh37
NC_000007.12:g.86920238A>G	NCBI36
NG_007118.1:g.32447T>C
NG_007118.2:g.32447T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000359206.8:c.494T>C	ENSP00000352135.3:p.Phe165Ser
ENST00000643670.1:c.437T>C	ENSP00000496629.1:p.Phe146Ser
ENST00000644106.1:c.494T>C	ENSP00000493477.1:p.Phe165Ser
ENST00000649586.2:c.494T>C MANE Select	ENSP00000496956.2:p.Phe165Ser
ENST00000265723.8:c.494T>C	ENSP00000265723.4:p.Phe165Ser
ENST00000358400.7:c.494T>C	ENSP00000351172.3:p.Phe165Ser
ENST00000359206.7:c.494T>C	ENSP00000352135.3:p.Phe165Ser
ENST00000453593.5:c.494T>C	ENSP00000392983.1:p.Phe165Ser
ENST00000473795.1:n.501T>C
NM_000443.3:c.494T>C	NP_000434.1:p.Phe165Ser
NM_018849.2:c.494T>C	NP_061337.1:p.Phe165Ser
NM_018850.2:c.494T>C	NP_061338.1:p.Phe165Ser
XM_011516308.1:c.494T>C	XP_011514610.1:p.Phe165Ser
XM_011516309.1:c.494T>C	XP_011514611.1:p.Phe165Ser
XM_011516310.1:c.494T>C	XP_011514612.1:p.Phe165Ser
XM_011516311.1:c.494T>C	XP_011514613.1:p.Phe165Ser
XM_011516312.1:c.494T>C	XP_011514614.1:p.Phe165Ser
XM_011516313.1:c.494T>C	XP_011514615.1:p.Phe165Ser
XM_011516314.1:c.515T>C	XP_011514616.1:p.Phe172Ser
XM_011516315.1:c.-90T>C	XP_011514617.1:n.-90T>C
XR_927478.1:n.590T>C
XM_011516308.3:c.764T>C	XP_011514610.3:p.Phe255Ser
XM_011516309.3:c.764T>C	XP_011514611.3:p.Phe255Ser
XM_011516310.3:c.764T>C	XP_011514612.3:p.Phe255Ser
XM_011516311.3:c.764T>C	XP_011514613.3:p.Phe255Ser
XM_011516312.3:c.764T>C	XP_011514614.3:p.Phe255Ser
XM_011516313.3:c.764T>C	XP_011514615.2:p.Phe255Ser
XM_011516315.3:c.-90T>C	XP_011514617.2:n.-90T>C
XM_017012323.2:c.494T>C	XP_016867812.1:p.Phe165Ser
XR_001744809.2:n.1265T>C
XR_001744810.2:n.1260T>C
NM_000443.4:c.494T>C MANE Select	NP_000434.1:p.Phe165Ser
NM_018849.3:c.494T>C	NP_061337.1:p.Phe165Ser
NM_018850.3:c.494T>C	NP_061338.1:p.Phe165Ser