Canonical Allele Identifier: CA368060472

Gene: ABCB4

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359206.8:c.2912G>T	ENSP00000352135.3:p.Arg971Ile
ENST00000649586.2:c.2912G>T MANE Select	ENSP00000496956.2:p.Arg971Ile
ENST00000265723.8:c.2912G>T	ENSP00000265723.4:p.Arg971Ile
ENST00000358400.7:c.2783+1712G>T	ENSP00000351172.3:n.2783+1712G>T
ENST00000359206.7:c.2912G>T	ENSP00000352135.3:p.Arg971Ile
ENST00000453593.5:c.2783+1712G>T	ENSP00000392983.1:n.2783+1712G>T
NM_000443.3:c.2912G>T	NP_000434.1:p.Arg971Ile
NM_018849.2:c.2912G>T	NP_061337.1:p.Arg971Ile
NM_018850.2:c.2783+1712G>T	NP_061338.1:n.2783+1712G>T
XM_011516308.1:c.2912G>T	XP_011514610.1:p.Arg971Ile
XM_011516309.1:c.2912G>T	XP_011514611.1:p.Arg971Ile
XM_011516310.1:c.2807G>T	XP_011514612.1:p.Arg936Ile
XM_011516311.1:c.2784-1G>T	XP_011514613.1:n.2784-1G>T
XM_011516312.1:c.2783+1712G>T	XP_011514614.1:n.2783+1712G>T
XM_011516313.1:c.2783+1712G>T	XP_011514615.1:n.2783+1712G>T
XM_011516314.1:c.2933G>T	XP_011514616.1:p.Arg978Ile
XM_011516315.1:c.2252G>T	XP_011514617.1:p.Arg751Ile
XR_927478.1:n.2779-2513G>T
XM_011516308.3:c.3182G>T	XP_011514610.3:p.Arg1061Ile
XM_011516309.3:c.3182G>T	XP_011514611.3:p.Arg1061Ile
XM_011516310.3:c.3077G>T	XP_011514612.3:p.Arg1026Ile
XM_011516311.3:c.3054-1G>T	XP_011514613.3:n.3054-1G>T
XM_011516312.3:c.3053+1712G>T	XP_011514614.3:n.3053+1712G>T
XM_011516313.3:c.3053+1712G>T	XP_011514615.2:n.3053+1712G>T
XM_011516315.3:c.2252G>T	XP_011514617.2:p.Arg751Ile
XM_017012323.2:c.2912G>T	XP_016867812.1:p.Arg971Ile
XR_001744809.2:n.3454-2513G>T
NM_000443.4:c.2912G>T MANE Select	NP_000434.1:p.Arg971Ile
NM_018849.3:c.2912G>T	NP_061337.1:p.Arg971Ile
NM_018850.3:c.2783+1712G>T	NP_061338.1:n.2783+1712G>T