Canonical Allele Identifier: CA368056703

Gene: ABCB4

Linked Data

• MyVariant Identifiers: chr7:g.87031488G>T (hg19) ; chr7:g.87402172G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87402172G>T , CM000669.2:g.87402172G>T	GRCh38
NC_000007.13:g.87031488G>T , CM000669.1:g.87031488G>T	GRCh37
NC_000007.12:g.86869424G>T	NCBI36
NG_007118.1:g.83261C>A
NG_007118.2:g.83261C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359206.8:c.3764C>A	ENSP00000352135.3:p.Thr1255Lys
ENST00000649586.2:c.3764C>A MANE Select	ENSP00000496956.2:p.Thr1255Lys
ENST00000265723.8:c.3785C>A	ENSP00000265723.4:p.Thr1262Lys
ENST00000358400.7:c.3623C>A	ENSP00000351172.3:p.Thr1208Lys
ENST00000359206.7:c.3764C>A	ENSP00000352135.3:p.Thr1255Lys
ENST00000440025.1:c.198C>A
ENST00000453593.5:c.3623C>A	ENSP00000392983.1:p.Thr1208Lys
ENST00000467983.1:n.376C>A
NM_000443.3:c.3764C>A	NP_000434.1:p.Thr1255Lys
NM_018849.2:c.3785C>A	NP_061337.1:p.Thr1262Lys
NM_018850.2:c.3623C>A	NP_061338.1:p.Thr1208Lys
XM_011516308.1:c.3785C>A	XP_011514610.1:p.Thr1262Lys
XM_011516309.1:c.3764C>A	XP_011514611.1:p.Thr1255Lys
XM_011516310.1:c.3680C>A	XP_011514612.1:p.Thr1227Lys
XM_011516311.1:c.3656C>A	XP_011514613.1:p.Thr1219Lys
XM_011516312.1:c.3644C>A	XP_011514614.1:p.Thr1215Lys
XM_011516313.1:c.3623C>A	XP_011514615.1:p.Thr1208Lys
XM_011516314.1:c.3806C>A	XP_011514616.1:p.Thr1269Lys
XM_011516315.1:c.3125C>A	XP_011514617.1:p.Thr1042Lys
XM_011516308.3:c.4055C>A	XP_011514610.3:p.Thr1352Lys
XM_011516309.3:c.4034C>A	XP_011514611.3:p.Thr1345Lys
XM_011516310.3:c.3950C>A	XP_011514612.3:p.Thr1317Lys
XM_011516311.3:c.3926C>A	XP_011514613.3:p.Thr1309Lys
XM_011516312.3:c.3914C>A	XP_011514614.3:p.Thr1305Lys
XM_011516313.3:c.3893C>A	XP_011514615.2:p.Thr1298Lys
XM_011516315.3:c.3125C>A	XP_011514617.2:p.Thr1042Lys
XM_017012323.2:c.3785C>A	XP_016867812.1:p.Thr1262Lys
XR_001744809.2:n.4293C>A
NM_000443.4:c.3764C>A MANE Select	NP_000434.1:p.Thr1255Lys
NM_018849.3:c.3785C>A	NP_061337.1:p.Thr1262Lys
NM_018850.3:c.3623C>A	NP_061338.1:p.Thr1208Lys