Canonical Allele Identifier: CA368060474

Gene: ABCB4

Linked Data

• MyVariant Identifiers: chr7:g.87041221C>T (hg19) ; chr7:g.87411905C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87411905C>T , CM000669.2:g.87411905C>T	GRCh38
NC_000007.13:g.87041221C>T , CM000669.1:g.87041221C>T	GRCh37
NC_000007.12:g.86879157C>T	NCBI36
NG_007118.1:g.73528G>A
NG_007118.2:g.73528G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359206.8:c.2912G>A	ENSP00000352135.3:p.Arg971Lys
ENST00000649586.2:c.2912G>A MANE Select	ENSP00000496956.2:p.Arg971Lys
ENST00000265723.8:c.2912G>A	ENSP00000265723.4:p.Arg971Lys
ENST00000358400.7:c.2783+1712G>A	ENSP00000351172.3:n.2783+1712G>A
ENST00000359206.7:c.2912G>A	ENSP00000352135.3:p.Arg971Lys
ENST00000453593.5:c.2783+1712G>A	ENSP00000392983.1:n.2783+1712G>A
NM_000443.3:c.2912G>A	NP_000434.1:p.Arg971Lys
NM_018849.2:c.2912G>A	NP_061337.1:p.Arg971Lys
NM_018850.2:c.2783+1712G>A	NP_061338.1:n.2783+1712G>A
XM_011516308.1:c.2912G>A	XP_011514610.1:p.Arg971Lys
XM_011516309.1:c.2912G>A	XP_011514611.1:p.Arg971Lys
XM_011516310.1:c.2807G>A	XP_011514612.1:p.Arg936Lys
XM_011516311.1:c.2784-1G>A	XP_011514613.1:n.2784-1G>A
XM_011516312.1:c.2783+1712G>A	XP_011514614.1:n.2783+1712G>A
XM_011516313.1:c.2783+1712G>A	XP_011514615.1:n.2783+1712G>A
XM_011516314.1:c.2933G>A	XP_011514616.1:p.Arg978Lys
XM_011516315.1:c.2252G>A	XP_011514617.1:p.Arg751Lys
XR_927478.1:n.2779-2513G>A
XM_011516308.3:c.3182G>A	XP_011514610.3:p.Arg1061Lys
XM_011516309.3:c.3182G>A	XP_011514611.3:p.Arg1061Lys
XM_011516310.3:c.3077G>A	XP_011514612.3:p.Arg1026Lys
XM_011516311.3:c.3054-1G>A	XP_011514613.3:n.3054-1G>A
XM_011516312.3:c.3053+1712G>A	XP_011514614.3:n.3053+1712G>A
XM_011516313.3:c.3053+1712G>A	XP_011514615.2:n.3053+1712G>A
XM_011516315.3:c.2252G>A	XP_011514617.2:p.Arg751Lys
XM_017012323.2:c.2912G>A	XP_016867812.1:p.Arg971Lys
XR_001744809.2:n.3454-2513G>A
NM_000443.4:c.2912G>A MANE Select	NP_000434.1:p.Arg971Lys
NM_018849.3:c.2912G>A	NP_061337.1:p.Arg971Lys
NM_018850.3:c.2783+1712G>A	NP_061338.1:n.2783+1712G>A