Canonical Allele Identifier: CA368056749

Gene: ABCB4

Linked Data

• gnomAD v4: 7-87402189-T-G
• MyVariant Identifiers: chr7:g.87031505T>G (hg19) ; chr7:g.87402189T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87402189T>G , CM000669.2:g.87402189T>G	GRCh38
NC_000007.13:g.87031505T>G , CM000669.1:g.87031505T>G	GRCh37
NC_000007.12:g.86869441T>G	NCBI36
NG_007118.1:g.83244A>C
NG_007118.2:g.83244A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359206.8:c.3747A>C	ENSP00000352135.3:p.Arg1249Ser
ENST00000649586.2:c.3747A>C MANE Select	ENSP00000496956.2:p.Arg1249Ser
ENST00000265723.8:c.3768A>C	ENSP00000265723.4:p.Arg1256Ser
ENST00000358400.7:c.3606A>C	ENSP00000351172.3:p.Arg1202Ser
ENST00000359206.7:c.3747A>C	ENSP00000352135.3:p.Arg1249Ser
ENST00000440025.1:c.181A>C
ENST00000453593.5:c.3606A>C	ENSP00000392983.1:p.Arg1202Ser
ENST00000467983.1:n.359A>C
NM_000443.3:c.3747A>C	NP_000434.1:p.Arg1249Ser
NM_018849.2:c.3768A>C	NP_061337.1:p.Arg1256Ser
NM_018850.2:c.3606A>C	NP_061338.1:p.Arg1202Ser
XM_011516308.1:c.3768A>C	XP_011514610.1:p.Arg1256Ser
XM_011516309.1:c.3747A>C	XP_011514611.1:p.Arg1249Ser
XM_011516310.1:c.3663A>C	XP_011514612.1:p.Arg1221Ser
XM_011516311.1:c.3639A>C	XP_011514613.1:p.Arg1213Ser
XM_011516312.1:c.3627A>C	XP_011514614.1:p.Arg1209Ser
XM_011516313.1:c.3606A>C	XP_011514615.1:p.Arg1202Ser
XM_011516314.1:c.3789A>C	XP_011514616.1:p.Arg1263Ser
XM_011516315.1:c.3108A>C	XP_011514617.1:p.Arg1036Ser
XM_011516308.3:c.4038A>C	XP_011514610.3:p.Arg1346Ser
XM_011516309.3:c.4017A>C	XP_011514611.3:p.Arg1339Ser
XM_011516310.3:c.3933A>C	XP_011514612.3:p.Arg1311Ser
XM_011516311.3:c.3909A>C	XP_011514613.3:p.Arg1303Ser
XM_011516312.3:c.3897A>C	XP_011514614.3:p.Arg1299Ser
XM_011516313.3:c.3876A>C	XP_011514615.2:p.Arg1292Ser
XM_011516315.3:c.3108A>C	XP_011514617.2:p.Arg1036Ser
XM_017012323.2:c.3768A>C	XP_016867812.1:p.Arg1256Ser
XR_001744809.2:n.4276A>C
NM_000443.4:c.3747A>C MANE Select	NP_000434.1:p.Arg1249Ser
NM_018849.3:c.3768A>C	NP_061337.1:p.Arg1256Ser
NM_018850.3:c.3606A>C	NP_061338.1:p.Arg1202Ser