Canonical Allele Identifier: CA368057039

Gene: ABCB4

Linked Data

• MyVariant Identifiers: chr7:g.87031587T>G (hg19) ; chr7:g.87402271T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87402271T>G , CM000669.2:g.87402271T>G	GRCh38
NC_000007.13:g.87031587T>G , CM000669.1:g.87031587T>G	GRCh37
NC_000007.12:g.86869523T>G	NCBI36
NG_007118.1:g.83162A>C
NG_007118.2:g.83162A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359206.8:c.3665A>C	ENSP00000352135.3:p.Glu1222Ala
ENST00000649586.2:c.3665A>C MANE Select	ENSP00000496956.2:p.Glu1222Ala
ENST00000265723.8:c.3686A>C	ENSP00000265723.4:p.Glu1229Ala
ENST00000358400.7:c.3524A>C	ENSP00000351172.3:p.Glu1175Ala
ENST00000359206.7:c.3665A>C	ENSP00000352135.3:p.Glu1222Ala
ENST00000440025.1:c.99A>C
ENST00000453593.5:c.3524A>C	ENSP00000392983.1:p.Glu1175Ala
ENST00000467983.1:n.277A>C
NM_000443.3:c.3665A>C	NP_000434.1:p.Glu1222Ala
NM_018849.2:c.3686A>C	NP_061337.1:p.Glu1229Ala
NM_018850.2:c.3524A>C	NP_061338.1:p.Glu1175Ala
XM_011516308.1:c.3686A>C	XP_011514610.1:p.Glu1229Ala
XM_011516309.1:c.3665A>C	XP_011514611.1:p.Glu1222Ala
XM_011516310.1:c.3581A>C	XP_011514612.1:p.Glu1194Ala
XM_011516311.1:c.3557A>C	XP_011514613.1:p.Glu1186Ala
XM_011516312.1:c.3545A>C	XP_011514614.1:p.Glu1182Ala
XM_011516313.1:c.3524A>C	XP_011514615.1:p.Glu1175Ala
XM_011516314.1:c.3707A>C	XP_011514616.1:p.Glu1236Ala
XM_011516315.1:c.3026A>C	XP_011514617.1:p.Glu1009Ala
XM_011516308.3:c.3956A>C	XP_011514610.3:p.Glu1319Ala
XM_011516309.3:c.3935A>C	XP_011514611.3:p.Glu1312Ala
XM_011516310.3:c.3851A>C	XP_011514612.3:p.Glu1284Ala
XM_011516311.3:c.3827A>C	XP_011514613.3:p.Glu1276Ala
XM_011516312.3:c.3815A>C	XP_011514614.3:p.Glu1272Ala
XM_011516313.3:c.3794A>C	XP_011514615.2:p.Glu1265Ala
XM_011516315.3:c.3026A>C	XP_011514617.2:p.Glu1009Ala
XM_017012323.2:c.3686A>C	XP_016867812.1:p.Glu1229Ala
XR_001744809.2:n.4194A>C
NM_000443.4:c.3665A>C MANE Select	NP_000434.1:p.Glu1222Ala
NM_018849.3:c.3686A>C	NP_061337.1:p.Glu1229Ala
NM_018850.3:c.3524A>C	NP_061338.1:p.Glu1175Ala