Canonical Allele Identifier: CA368056790

Gene: ABCB4

Linked Data

• gnomAD v4: 7-87402206-C-T
• MyVariant Identifiers: chr7:g.87031522C>T (hg19) ; chr7:g.87402206C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87402206C>T , CM000669.2:g.87402206C>T	GRCh38
NC_000007.13:g.87031522C>T , CM000669.1:g.87031522C>T	GRCh37
NC_000007.12:g.86869458C>T	NCBI36
NG_007118.1:g.83227G>A
NG_007118.2:g.83227G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359206.8:c.3730G>A	ENSP00000352135.3:p.Val1244Met
ENST00000649586.2:c.3730G>A MANE Select	ENSP00000496956.2:p.Val1244Met
ENST00000265723.8:c.3751G>A	ENSP00000265723.4:p.Val1251Met
ENST00000358400.7:c.3589G>A	ENSP00000351172.3:p.Val1197Met
ENST00000359206.7:c.3730G>A	ENSP00000352135.3:p.Val1244Met
ENST00000440025.1:c.164G>A
ENST00000453593.5:c.3589G>A	ENSP00000392983.1:p.Val1197Met
ENST00000467983.1:n.342G>A
NM_000443.3:c.3730G>A	NP_000434.1:p.Val1244Met
NM_018849.2:c.3751G>A	NP_061337.1:p.Val1251Met
NM_018850.2:c.3589G>A	NP_061338.1:p.Val1197Met
XM_011516308.1:c.3751G>A	XP_011514610.1:p.Val1251Met
XM_011516309.1:c.3730G>A	XP_011514611.1:p.Val1244Met
XM_011516310.1:c.3646G>A	XP_011514612.1:p.Val1216Met
XM_011516311.1:c.3622G>A	XP_011514613.1:p.Val1208Met
XM_011516312.1:c.3610G>A	XP_011514614.1:p.Val1204Met
XM_011516313.1:c.3589G>A	XP_011514615.1:p.Val1197Met
XM_011516314.1:c.3772G>A	XP_011514616.1:p.Val1258Met
XM_011516315.1:c.3091G>A	XP_011514617.1:p.Val1031Met
XM_011516308.3:c.4021G>A	XP_011514610.3:p.Val1341Met
XM_011516309.3:c.4000G>A	XP_011514611.3:p.Val1334Met
XM_011516310.3:c.3916G>A	XP_011514612.3:p.Val1306Met
XM_011516311.3:c.3892G>A	XP_011514613.3:p.Val1298Met
XM_011516312.3:c.3880G>A	XP_011514614.3:p.Val1294Met
XM_011516313.3:c.3859G>A	XP_011514615.2:p.Val1287Met
XM_011516315.3:c.3091G>A	XP_011514617.2:p.Val1031Met
XM_017012323.2:c.3751G>A	XP_016867812.1:p.Val1251Met
XR_001744809.2:n.4259G>A
NM_000443.4:c.3730G>A MANE Select	NP_000434.1:p.Val1244Met
NM_018849.3:c.3751G>A	NP_061337.1:p.Val1251Met
NM_018850.3:c.3589G>A	NP_061338.1:p.Val1197Met