Canonical Allele Identifier: CA368056747

Gene: ABCB4

Linked Data

• MyVariant Identifiers: chr7:g.87031504C>T (hg19) ; chr7:g.87402188C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87402188C>T , CM000669.2:g.87402188C>T	GRCh38
NC_000007.13:g.87031504C>T , CM000669.1:g.87031504C>T	GRCh37
NC_000007.12:g.86869440C>T	NCBI36
NG_007118.1:g.83245G>A
NG_007118.2:g.83245G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359206.8:c.3748G>A	ENSP00000352135.3:p.Val1250Ile
ENST00000649586.2:c.3748G>A MANE Select	ENSP00000496956.2:p.Val1250Ile
ENST00000265723.8:c.3769G>A	ENSP00000265723.4:p.Val1257Ile
ENST00000358400.7:c.3607G>A	ENSP00000351172.3:p.Val1203Ile
ENST00000359206.7:c.3748G>A	ENSP00000352135.3:p.Val1250Ile
ENST00000440025.1:c.182G>A
ENST00000453593.5:c.3607G>A	ENSP00000392983.1:p.Val1203Ile
ENST00000467983.1:n.360G>A
NM_000443.3:c.3748G>A	NP_000434.1:p.Val1250Ile
NM_018849.2:c.3769G>A	NP_061337.1:p.Val1257Ile
NM_018850.2:c.3607G>A	NP_061338.1:p.Val1203Ile
XM_011516308.1:c.3769G>A	XP_011514610.1:p.Val1257Ile
XM_011516309.1:c.3748G>A	XP_011514611.1:p.Val1250Ile
XM_011516310.1:c.3664G>A	XP_011514612.1:p.Val1222Ile
XM_011516311.1:c.3640G>A	XP_011514613.1:p.Val1214Ile
XM_011516312.1:c.3628G>A	XP_011514614.1:p.Val1210Ile
XM_011516313.1:c.3607G>A	XP_011514615.1:p.Val1203Ile
XM_011516314.1:c.3790G>A	XP_011514616.1:p.Val1264Ile
XM_011516315.1:c.3109G>A	XP_011514617.1:p.Val1037Ile
XM_011516308.3:c.4039G>A	XP_011514610.3:p.Val1347Ile
XM_011516309.3:c.4018G>A	XP_011514611.3:p.Val1340Ile
XM_011516310.3:c.3934G>A	XP_011514612.3:p.Val1312Ile
XM_011516311.3:c.3910G>A	XP_011514613.3:p.Val1304Ile
XM_011516312.3:c.3898G>A	XP_011514614.3:p.Val1300Ile
XM_011516313.3:c.3877G>A	XP_011514615.2:p.Val1293Ile
XM_011516315.3:c.3109G>A	XP_011514617.2:p.Val1037Ile
XM_017012323.2:c.3769G>A	XP_016867812.1:p.Val1257Ile
XR_001744809.2:n.4277G>A
NM_000443.4:c.3748G>A MANE Select	NP_000434.1:p.Val1250Ile
NM_018849.3:c.3769G>A	NP_061337.1:p.Val1257Ile
NM_018850.3:c.3607G>A	NP_061338.1:p.Val1203Ile