Canonical Allele Identifier: CA368056835

Gene: ABCB4

Linked Data

• MyVariant Identifiers: chr7:g.87031538A>C (hg19) ; chr7:g.87402222A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87402222A>C , CM000669.2:g.87402222A>C	GRCh38
NC_000007.13:g.87031538A>C , CM000669.1:g.87031538A>C	GRCh37
NC_000007.12:g.86869474A>C	NCBI36
NG_007118.1:g.83211T>G
NG_007118.2:g.83211T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359206.8:c.3714T>G	ENSP00000352135.3:p.Asn1238Lys
ENST00000649586.2:c.3714T>G MANE Select	ENSP00000496956.2:p.Asn1238Lys
ENST00000265723.8:c.3735T>G	ENSP00000265723.4:p.Asn1245Lys
ENST00000358400.7:c.3573T>G	ENSP00000351172.3:p.Asn1191Lys
ENST00000359206.7:c.3714T>G	ENSP00000352135.3:p.Asn1238Lys
ENST00000440025.1:c.148T>G
ENST00000453593.5:c.3573T>G	ENSP00000392983.1:p.Asn1191Lys
ENST00000467983.1:n.326T>G
NM_000443.3:c.3714T>G	NP_000434.1:p.Asn1238Lys
NM_018849.2:c.3735T>G	NP_061337.1:p.Asn1245Lys
NM_018850.2:c.3573T>G	NP_061338.1:p.Asn1191Lys
XM_011516308.1:c.3735T>G	XP_011514610.1:p.Asn1245Lys
XM_011516309.1:c.3714T>G	XP_011514611.1:p.Asn1238Lys
XM_011516310.1:c.3630T>G	XP_011514612.1:p.Asn1210Lys
XM_011516311.1:c.3606T>G	XP_011514613.1:p.Asn1202Lys
XM_011516312.1:c.3594T>G	XP_011514614.1:p.Asn1198Lys
XM_011516313.1:c.3573T>G	XP_011514615.1:p.Asn1191Lys
XM_011516314.1:c.3756T>G	XP_011514616.1:p.Asn1252Lys
XM_011516315.1:c.3075T>G	XP_011514617.1:p.Asn1025Lys
XM_011516308.3:c.4005T>G	XP_011514610.3:p.Asn1335Lys
XM_011516309.3:c.3984T>G	XP_011514611.3:p.Asn1328Lys
XM_011516310.3:c.3900T>G	XP_011514612.3:p.Asn1300Lys
XM_011516311.3:c.3876T>G	XP_011514613.3:p.Asn1292Lys
XM_011516312.3:c.3864T>G	XP_011514614.3:p.Asn1288Lys
XM_011516313.3:c.3843T>G	XP_011514615.2:p.Asn1281Lys
XM_011516315.3:c.3075T>G	XP_011514617.2:p.Asn1025Lys
XM_017012323.2:c.3735T>G	XP_016867812.1:p.Asn1245Lys
XR_001744809.2:n.4243T>G
NM_000443.4:c.3714T>G MANE Select	NP_000434.1:p.Asn1238Lys
NM_018849.3:c.3735T>G	NP_061337.1:p.Asn1245Lys
NM_018850.3:c.3573T>G	NP_061338.1:p.Asn1191Lys