Canonical Allele Identifier: CA456356261

Gene: ABCB4

Linked Data

• gnomAD v4: 7-87402228-G-A
• MyVariant Identifiers: chr7:g.87031544G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87402228G>A , CM000669.2:g.87402228G>A	GRCh38
NC_000007.13:g.87031544G>A , CM000669.1:g.87031544G>A	GRCh37
NC_000007.12:g.86869480G>A	NCBI36
NG_007118.1:g.83205C>T
NG_007118.2:g.83205C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359206.8:c.3708C>T	ENSP00000352135.3:p.Ile1236=
ENST00000649586.2:c.3708C>T MANE Select	ENSP00000496956.2:p.Ile1236=
ENST00000265723.8:c.3729C>T	ENSP00000265723.4:p.Ile1243=
ENST00000358400.7:c.3567C>T	ENSP00000351172.3:p.Ile1189=
ENST00000359206.7:c.3708C>T	ENSP00000352135.3:p.Ile1236=
ENST00000440025.1:c.142C>T
ENST00000453593.5:c.3567C>T	ENSP00000392983.1:p.Ile1189=
ENST00000467983.1:n.320C>T
NM_000443.3:c.3708C>T	NP_000434.1:p.Ile1236=
NM_018849.2:c.3729C>T	NP_061337.1:p.Ile1243=
NM_018850.2:c.3567C>T	NP_061338.1:p.Ile1189=
XM_011516308.1:c.3729C>T	XP_011514610.1:p.Ile1243=
XM_011516309.1:c.3708C>T	XP_011514611.1:p.Ile1236=
XM_011516310.1:c.3624C>T	XP_011514612.1:p.Ile1208=
XM_011516311.1:c.3600C>T	XP_011514613.1:p.Ile1200=
XM_011516312.1:c.3588C>T	XP_011514614.1:p.Ile1196=
XM_011516313.1:c.3567C>T	XP_011514615.1:p.Ile1189=
XM_011516314.1:c.3750C>T	XP_011514616.1:p.Ile1250=
XM_011516315.1:c.3069C>T	XP_011514617.1:p.Ile1023=
XM_011516308.3:c.3999C>T	XP_011514610.3:p.Ile1333=
XM_011516309.3:c.3978C>T	XP_011514611.3:p.Ile1326=
XM_011516310.3:c.3894C>T	XP_011514612.3:p.Ile1298=
XM_011516311.3:c.3870C>T	XP_011514613.3:p.Ile1290=
XM_011516312.3:c.3858C>T	XP_011514614.3:p.Ile1286=
XM_011516313.3:c.3837C>T	XP_011514615.2:p.Ile1279=
XM_011516315.3:c.3069C>T	XP_011514617.2:p.Ile1023=
XM_017012323.2:c.3729C>T	XP_016867812.1:p.Ile1243=
XR_001744809.2:n.4237C>T
NM_000443.4:c.3708C>T MANE Select	NP_000434.1:p.Ile1236=
NM_018849.3:c.3729C>T	NP_061337.1:p.Ile1243=
NM_018850.3:c.3567C>T	NP_061338.1:p.Ile1189=