Canonical Allele Identifier: CA368056730

Gene: ABCB4

Linked Data

• MyVariant Identifiers: chr7:g.87031497T>G (hg19) ; chr7:g.87402181T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87402181T>G , CM000669.2:g.87402181T>G	GRCh38
NC_000007.13:g.87031497T>G , CM000669.1:g.87031497T>G	GRCh37
NC_000007.12:g.86869433T>G	NCBI36
NG_007118.1:g.83252A>C
NG_007118.2:g.83252A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359206.8:c.3755A>C	ENSP00000352135.3:p.Glu1252Ala
ENST00000649586.2:c.3755A>C MANE Select	ENSP00000496956.2:p.Glu1252Ala
ENST00000265723.8:c.3776A>C	ENSP00000265723.4:p.Glu1259Ala
ENST00000358400.7:c.3614A>C	ENSP00000351172.3:p.Glu1205Ala
ENST00000359206.7:c.3755A>C	ENSP00000352135.3:p.Glu1252Ala
ENST00000440025.1:c.189A>C
ENST00000453593.5:c.3614A>C	ENSP00000392983.1:p.Glu1205Ala
ENST00000467983.1:n.367A>C
NM_000443.3:c.3755A>C	NP_000434.1:p.Glu1252Ala
NM_018849.2:c.3776A>C	NP_061337.1:p.Glu1259Ala
NM_018850.2:c.3614A>C	NP_061338.1:p.Glu1205Ala
XM_011516308.1:c.3776A>C	XP_011514610.1:p.Glu1259Ala
XM_011516309.1:c.3755A>C	XP_011514611.1:p.Glu1252Ala
XM_011516310.1:c.3671A>C	XP_011514612.1:p.Glu1224Ala
XM_011516311.1:c.3647A>C	XP_011514613.1:p.Glu1216Ala
XM_011516312.1:c.3635A>C	XP_011514614.1:p.Glu1212Ala
XM_011516313.1:c.3614A>C	XP_011514615.1:p.Glu1205Ala
XM_011516314.1:c.3797A>C	XP_011514616.1:p.Glu1266Ala
XM_011516315.1:c.3116A>C	XP_011514617.1:p.Glu1039Ala
XM_011516308.3:c.4046A>C	XP_011514610.3:p.Glu1349Ala
XM_011516309.3:c.4025A>C	XP_011514611.3:p.Glu1342Ala
XM_011516310.3:c.3941A>C	XP_011514612.3:p.Glu1314Ala
XM_011516311.3:c.3917A>C	XP_011514613.3:p.Glu1306Ala
XM_011516312.3:c.3905A>C	XP_011514614.3:p.Glu1302Ala
XM_011516313.3:c.3884A>C	XP_011514615.2:p.Glu1295Ala
XM_011516315.3:c.3116A>C	XP_011514617.2:p.Glu1039Ala
XM_017012323.2:c.3776A>C	XP_016867812.1:p.Glu1259Ala
XR_001744809.2:n.4284A>C
NM_000443.4:c.3755A>C MANE Select	NP_000434.1:p.Glu1252Ala
NM_018849.3:c.3776A>C	NP_061337.1:p.Glu1259Ala
NM_018850.3:c.3614A>C	NP_061338.1:p.Glu1205Ala