Canonical Allele Identifier: CA456356267

Gene: ABCB4

Linked Data

• gnomAD v4: 7-87402231-G-T
• MyVariant Identifiers: chr7:g.87031547G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87402231G>T , CM000669.2:g.87402231G>T	GRCh38
NC_000007.13:g.87031547G>T , CM000669.1:g.87031547G>T	GRCh37
NC_000007.12:g.86869483G>T	NCBI36
NG_007118.1:g.83202C>A
NG_007118.2:g.83202C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359206.8:c.3705C>A	ENSP00000352135.3:p.Thr1235=
ENST00000649586.2:c.3705C>A MANE Select	ENSP00000496956.2:p.Thr1235=
ENST00000265723.8:c.3726C>A	ENSP00000265723.4:p.Thr1242=
ENST00000358400.7:c.3564C>A	ENSP00000351172.3:p.Thr1188=
ENST00000359206.7:c.3705C>A	ENSP00000352135.3:p.Thr1235=
ENST00000440025.1:c.139C>A
ENST00000453593.5:c.3564C>A	ENSP00000392983.1:p.Thr1188=
ENST00000467983.1:n.317C>A
NM_000443.3:c.3705C>A	NP_000434.1:p.Thr1235=
NM_018849.2:c.3726C>A	NP_061337.1:p.Thr1242=
NM_018850.2:c.3564C>A	NP_061338.1:p.Thr1188=
XM_011516308.1:c.3726C>A	XP_011514610.1:p.Thr1242=
XM_011516309.1:c.3705C>A	XP_011514611.1:p.Thr1235=
XM_011516310.1:c.3621C>A	XP_011514612.1:p.Thr1207=
XM_011516311.1:c.3597C>A	XP_011514613.1:p.Thr1199=
XM_011516312.1:c.3585C>A	XP_011514614.1:p.Thr1195=
XM_011516313.1:c.3564C>A	XP_011514615.1:p.Thr1188=
XM_011516314.1:c.3747C>A	XP_011514616.1:p.Thr1249=
XM_011516315.1:c.3066C>A	XP_011514617.1:p.Thr1022=
XM_011516308.3:c.3996C>A	XP_011514610.3:p.Thr1332=
XM_011516309.3:c.3975C>A	XP_011514611.3:p.Thr1325=
XM_011516310.3:c.3891C>A	XP_011514612.3:p.Thr1297=
XM_011516311.3:c.3867C>A	XP_011514613.3:p.Thr1289=
XM_011516312.3:c.3855C>A	XP_011514614.3:p.Thr1285=
XM_011516313.3:c.3834C>A	XP_011514615.2:p.Thr1278=
XM_011516315.3:c.3066C>A	XP_011514617.2:p.Thr1022=
XM_017012323.2:c.3726C>A	XP_016867812.1:p.Thr1242=
XR_001744809.2:n.4234C>A
NM_000443.4:c.3705C>A MANE Select	NP_000434.1:p.Thr1235=
NM_018849.3:c.3726C>A	NP_061337.1:p.Thr1242=
NM_018850.3:c.3564C>A	NP_061338.1:p.Thr1188=