Canonical Allele Identifier: CA368056783

Gene: ABCB4

Linked Data

• MyVariant Identifiers: chr7:g.87031519A>T (hg19) ; chr7:g.87402203A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87402203A>T , CM000669.2:g.87402203A>T	GRCh38
NC_000007.13:g.87031519A>T , CM000669.1:g.87031519A>T	GRCh37
NC_000007.12:g.86869455A>T	NCBI36
NG_007118.1:g.83230T>A
NG_007118.2:g.83230T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359206.8:c.3733T>A	ENSP00000352135.3:p.Phe1245Ile
ENST00000649586.2:c.3733T>A MANE Select	ENSP00000496956.2:p.Phe1245Ile
ENST00000265723.8:c.3754T>A	ENSP00000265723.4:p.Phe1252Ile
ENST00000358400.7:c.3592T>A	ENSP00000351172.3:p.Phe1198Ile
ENST00000359206.7:c.3733T>A	ENSP00000352135.3:p.Phe1245Ile
ENST00000440025.1:c.167T>A
ENST00000453593.5:c.3592T>A	ENSP00000392983.1:p.Phe1198Ile
ENST00000467983.1:n.345T>A
NM_000443.3:c.3733T>A	NP_000434.1:p.Phe1245Ile
NM_018849.2:c.3754T>A	NP_061337.1:p.Phe1252Ile
NM_018850.2:c.3592T>A	NP_061338.1:p.Phe1198Ile
XM_011516308.1:c.3754T>A	XP_011514610.1:p.Phe1252Ile
XM_011516309.1:c.3733T>A	XP_011514611.1:p.Phe1245Ile
XM_011516310.1:c.3649T>A	XP_011514612.1:p.Phe1217Ile
XM_011516311.1:c.3625T>A	XP_011514613.1:p.Phe1209Ile
XM_011516312.1:c.3613T>A	XP_011514614.1:p.Phe1205Ile
XM_011516313.1:c.3592T>A	XP_011514615.1:p.Phe1198Ile
XM_011516314.1:c.3775T>A	XP_011514616.1:p.Phe1259Ile
XM_011516315.1:c.3094T>A	XP_011514617.1:p.Phe1032Ile
XM_011516308.3:c.4024T>A	XP_011514610.3:p.Phe1342Ile
XM_011516309.3:c.4003T>A	XP_011514611.3:p.Phe1335Ile
XM_011516310.3:c.3919T>A	XP_011514612.3:p.Phe1307Ile
XM_011516311.3:c.3895T>A	XP_011514613.3:p.Phe1299Ile
XM_011516312.3:c.3883T>A	XP_011514614.3:p.Phe1295Ile
XM_011516313.3:c.3862T>A	XP_011514615.2:p.Phe1288Ile
XM_011516315.3:c.3094T>A	XP_011514617.2:p.Phe1032Ile
XM_017012323.2:c.3754T>A	XP_016867812.1:p.Phe1252Ile
XR_001744809.2:n.4262T>A
NM_000443.4:c.3733T>A MANE Select	NP_000434.1:p.Phe1245Ile
NM_018849.3:c.3754T>A	NP_061337.1:p.Phe1252Ile
NM_018850.3:c.3592T>A	NP_061338.1:p.Phe1198Ile