Canonical Allele Identifier: CA456356278

Gene: ABCB4

Linked Data

• gnomAD v4: 7-87402240-G-T
• MyVariant Identifiers: chr7:g.87031556G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87402240G>T , CM000669.2:g.87402240G>T	GRCh38
NC_000007.13:g.87031556G>T , CM000669.1:g.87031556G>T	GRCh37
NC_000007.12:g.86869492G>T	NCBI36
NG_007118.1:g.83193C>A
NG_007118.2:g.83193C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359206.8:c.3696C>A	ENSP00000352135.3:p.Arg1232=
ENST00000649586.2:c.3696C>A MANE Select	ENSP00000496956.2:p.Arg1232=
ENST00000265723.8:c.3717C>A	ENSP00000265723.4:p.Arg1239=
ENST00000358400.7:c.3555C>A	ENSP00000351172.3:p.Arg1185=
ENST00000359206.7:c.3696C>A	ENSP00000352135.3:p.Arg1232=
ENST00000440025.1:c.130C>A
ENST00000453593.5:c.3555C>A	ENSP00000392983.1:p.Arg1185=
ENST00000467983.1:n.308C>A
NM_000443.3:c.3696C>A	NP_000434.1:p.Arg1232=
NM_018849.2:c.3717C>A	NP_061337.1:p.Arg1239=
NM_018850.2:c.3555C>A	NP_061338.1:p.Arg1185=
XM_011516308.1:c.3717C>A	XP_011514610.1:p.Arg1239=
XM_011516309.1:c.3696C>A	XP_011514611.1:p.Arg1232=
XM_011516310.1:c.3612C>A	XP_011514612.1:p.Arg1204=
XM_011516311.1:c.3588C>A	XP_011514613.1:p.Arg1196=
XM_011516312.1:c.3576C>A	XP_011514614.1:p.Arg1192=
XM_011516313.1:c.3555C>A	XP_011514615.1:p.Arg1185=
XM_011516314.1:c.3738C>A	XP_011514616.1:p.Arg1246=
XM_011516315.1:c.3057C>A	XP_011514617.1:p.Arg1019=
XM_011516308.3:c.3987C>A	XP_011514610.3:p.Arg1329=
XM_011516309.3:c.3966C>A	XP_011514611.3:p.Arg1322=
XM_011516310.3:c.3882C>A	XP_011514612.3:p.Arg1294=
XM_011516311.3:c.3858C>A	XP_011514613.3:p.Arg1286=
XM_011516312.3:c.3846C>A	XP_011514614.3:p.Arg1282=
XM_011516313.3:c.3825C>A	XP_011514615.2:p.Arg1275=
XM_011516315.3:c.3057C>A	XP_011514617.2:p.Arg1019=
XM_017012323.2:c.3717C>A	XP_016867812.1:p.Arg1239=
XR_001744809.2:n.4225C>A
NM_000443.4:c.3696C>A MANE Select	NP_000434.1:p.Arg1232=
NM_018849.3:c.3717C>A	NP_061337.1:p.Arg1239=
NM_018850.3:c.3555C>A	NP_061338.1:p.Arg1185=