Canonical Allele Identifier: CA456356295

Gene: ABCB4

Linked Data

• dbSNP Id: rs1465197325
• gnomAD v2: 7-87031571-A-G
• gnomAD v4: 7-87402255-A-G
• MyVariant Identifiers: chr7:g.87031571A>G (hg19) ; chr7:g.87402255A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87402255A>G , CM000669.2:g.87402255A>G	GRCh38
NC_000007.13:g.87031571A>G , CM000669.1:g.87031571A>G	GRCh37
NC_000007.12:g.86869507A>G	NCBI36
NG_007118.1:g.83178T>C
NG_007118.2:g.83178T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359206.8:c.3681T>C	ENSP00000352135.3:p.Ile1227=
ENST00000649586.2:c.3681T>C MANE Select	ENSP00000496956.2:p.Ile1227=
ENST00000265723.8:c.3702T>C	ENSP00000265723.4:p.Ile1234=
ENST00000358400.7:c.3540T>C	ENSP00000351172.3:p.Ile1180=
ENST00000359206.7:c.3681T>C	ENSP00000352135.3:p.Ile1227=
ENST00000440025.1:c.115T>C
ENST00000453593.5:c.3540T>C	ENSP00000392983.1:p.Ile1180=
ENST00000467983.1:n.293T>C
NM_000443.3:c.3681T>C	NP_000434.1:p.Ile1227=
NM_018849.2:c.3702T>C	NP_061337.1:p.Ile1234=
NM_018850.2:c.3540T>C	NP_061338.1:p.Ile1180=
XM_011516308.1:c.3702T>C	XP_011514610.1:p.Ile1234=
XM_011516309.1:c.3681T>C	XP_011514611.1:p.Ile1227=
XM_011516310.1:c.3597T>C	XP_011514612.1:p.Ile1199=
XM_011516311.1:c.3573T>C	XP_011514613.1:p.Ile1191=
XM_011516312.1:c.3561T>C	XP_011514614.1:p.Ile1187=
XM_011516313.1:c.3540T>C	XP_011514615.1:p.Ile1180=
XM_011516314.1:c.3723T>C	XP_011514616.1:p.Ile1241=
XM_011516315.1:c.3042T>C	XP_011514617.1:p.Ile1014=
XM_011516308.3:c.3972T>C	XP_011514610.3:p.Ile1324=
XM_011516309.3:c.3951T>C	XP_011514611.3:p.Ile1317=
XM_011516310.3:c.3867T>C	XP_011514612.3:p.Ile1289=
XM_011516311.3:c.3843T>C	XP_011514613.3:p.Ile1281=
XM_011516312.3:c.3831T>C	XP_011514614.3:p.Ile1277=
XM_011516313.3:c.3810T>C	XP_011514615.2:p.Ile1270=
XM_011516315.3:c.3042T>C	XP_011514617.2:p.Ile1014=
XM_017012323.2:c.3702T>C	XP_016867812.1:p.Ile1234=
XR_001744809.2:n.4210T>C
NM_000443.4:c.3681T>C MANE Select	NP_000434.1:p.Ile1227=
NM_018849.3:c.3702T>C	NP_061337.1:p.Ile1234=
NM_018850.3:c.3540T>C	NP_061338.1:p.Ile1180=