Canonical Allele Identifier: CA456356144

Gene: ABCB4

Linked Data

• MyVariant Identifiers: chr7:g.87031511A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87402195A>G , CM000669.2:g.87402195A>G	GRCh38
NC_000007.13:g.87031511A>G , CM000669.1:g.87031511A>G	GRCh37
NC_000007.12:g.86869447A>G	NCBI36
NG_007118.1:g.83238T>C
NG_007118.2:g.83238T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359206.8:c.3741T>C	ENSP00000352135.3:p.Asn1247=
ENST00000649586.2:c.3741T>C MANE Select	ENSP00000496956.2:p.Asn1247=
ENST00000265723.8:c.3762T>C	ENSP00000265723.4:p.Asn1254=
ENST00000358400.7:c.3600T>C	ENSP00000351172.3:p.Asn1200=
ENST00000359206.7:c.3741T>C	ENSP00000352135.3:p.Asn1247=
ENST00000440025.1:c.175T>C
ENST00000453593.5:c.3600T>C	ENSP00000392983.1:p.Asn1200=
ENST00000467983.1:n.353T>C
NM_000443.3:c.3741T>C	NP_000434.1:p.Asn1247=
NM_018849.2:c.3762T>C	NP_061337.1:p.Asn1254=
NM_018850.2:c.3600T>C	NP_061338.1:p.Asn1200=
XM_011516308.1:c.3762T>C	XP_011514610.1:p.Asn1254=
XM_011516309.1:c.3741T>C	XP_011514611.1:p.Asn1247=
XM_011516310.1:c.3657T>C	XP_011514612.1:p.Asn1219=
XM_011516311.1:c.3633T>C	XP_011514613.1:p.Asn1211=
XM_011516312.1:c.3621T>C	XP_011514614.1:p.Asn1207=
XM_011516313.1:c.3600T>C	XP_011514615.1:p.Asn1200=
XM_011516314.1:c.3783T>C	XP_011514616.1:p.Asn1261=
XM_011516315.1:c.3102T>C	XP_011514617.1:p.Asn1034=
XM_011516308.3:c.4032T>C	XP_011514610.3:p.Asn1344=
XM_011516309.3:c.4011T>C	XP_011514611.3:p.Asn1337=
XM_011516310.3:c.3927T>C	XP_011514612.3:p.Asn1309=
XM_011516311.3:c.3903T>C	XP_011514613.3:p.Asn1301=
XM_011516312.3:c.3891T>C	XP_011514614.3:p.Asn1297=
XM_011516313.3:c.3870T>C	XP_011514615.2:p.Asn1290=
XM_011516315.3:c.3102T>C	XP_011514617.2:p.Asn1034=
XM_017012323.2:c.3762T>C	XP_016867812.1:p.Asn1254=
XR_001744809.2:n.4270T>C
NM_000443.4:c.3741T>C MANE Select	NP_000434.1:p.Asn1247=
NM_018849.3:c.3762T>C	NP_061337.1:p.Asn1254=
NM_018850.3:c.3600T>C	NP_061338.1:p.Asn1200=