Canonical Allele Identifier: CA368056964

Gene: ABCB4

Linked Data

• MyVariant Identifiers: chr7:g.87031567T>A (hg19) ; chr7:g.87402251T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87402251T>A , CM000669.2:g.87402251T>A	GRCh38
NC_000007.13:g.87031567T>A , CM000669.1:g.87031567T>A	GRCh37
NC_000007.12:g.86869503T>A	NCBI36
NG_007118.1:g.83182A>T
NG_007118.2:g.83182A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359206.8:c.3685A>T	ENSP00000352135.3:p.Ile1229Phe
ENST00000649586.2:c.3685A>T MANE Select	ENSP00000496956.2:p.Ile1229Phe
ENST00000265723.8:c.3706A>T	ENSP00000265723.4:p.Ile1236Phe
ENST00000358400.7:c.3544A>T	ENSP00000351172.3:p.Ile1182Phe
ENST00000359206.7:c.3685A>T	ENSP00000352135.3:p.Ile1229Phe
ENST00000440025.1:c.119A>T
ENST00000453593.5:c.3544A>T	ENSP00000392983.1:p.Ile1182Phe
ENST00000467983.1:n.297A>T
NM_000443.3:c.3685A>T	NP_000434.1:p.Ile1229Phe
NM_018849.2:c.3706A>T	NP_061337.1:p.Ile1236Phe
NM_018850.2:c.3544A>T	NP_061338.1:p.Ile1182Phe
XM_011516308.1:c.3706A>T	XP_011514610.1:p.Ile1236Phe
XM_011516309.1:c.3685A>T	XP_011514611.1:p.Ile1229Phe
XM_011516310.1:c.3601A>T	XP_011514612.1:p.Ile1201Phe
XM_011516311.1:c.3577A>T	XP_011514613.1:p.Ile1193Phe
XM_011516312.1:c.3565A>T	XP_011514614.1:p.Ile1189Phe
XM_011516313.1:c.3544A>T	XP_011514615.1:p.Ile1182Phe
XM_011516314.1:c.3727A>T	XP_011514616.1:p.Ile1243Phe
XM_011516315.1:c.3046A>T	XP_011514617.1:p.Ile1016Phe
XM_011516308.3:c.3976A>T	XP_011514610.3:p.Ile1326Phe
XM_011516309.3:c.3955A>T	XP_011514611.3:p.Ile1319Phe
XM_011516310.3:c.3871A>T	XP_011514612.3:p.Ile1291Phe
XM_011516311.3:c.3847A>T	XP_011514613.3:p.Ile1283Phe
XM_011516312.3:c.3835A>T	XP_011514614.3:p.Ile1279Phe
XM_011516313.3:c.3814A>T	XP_011514615.2:p.Ile1272Phe
XM_011516315.3:c.3046A>T	XP_011514617.2:p.Ile1016Phe
XM_017012323.2:c.3706A>T	XP_016867812.1:p.Ile1236Phe
XR_001744809.2:n.4214A>T
NM_000443.4:c.3685A>T MANE Select	NP_000434.1:p.Ile1229Phe
NM_018849.3:c.3706A>T	NP_061337.1:p.Ile1236Phe
NM_018850.3:c.3544A>T	NP_061338.1:p.Ile1182Phe