Canonical Allele Identifier: CA368056958

Gene: ABCB4

Linked Data

• MyVariant Identifiers: chr7:g.87031566A>T (hg19) ; chr7:g.87402250A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87402250A>T , CM000669.2:g.87402250A>T	GRCh38
NC_000007.13:g.87031566A>T , CM000669.1:g.87031566A>T	GRCh37
NC_000007.12:g.86869502A>T	NCBI36
NG_007118.1:g.83183T>A
NG_007118.2:g.83183T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359206.8:c.3686T>A	ENSP00000352135.3:p.Ile1229Asn
ENST00000649586.2:c.3686T>A MANE Select	ENSP00000496956.2:p.Ile1229Asn
ENST00000265723.8:c.3707T>A	ENSP00000265723.4:p.Ile1236Asn
ENST00000358400.7:c.3545T>A	ENSP00000351172.3:p.Ile1182Asn
ENST00000359206.7:c.3686T>A	ENSP00000352135.3:p.Ile1229Asn
ENST00000440025.1:c.120T>A
ENST00000453593.5:c.3545T>A	ENSP00000392983.1:p.Ile1182Asn
ENST00000467983.1:n.298T>A
NM_000443.3:c.3686T>A	NP_000434.1:p.Ile1229Asn
NM_018849.2:c.3707T>A	NP_061337.1:p.Ile1236Asn
NM_018850.2:c.3545T>A	NP_061338.1:p.Ile1182Asn
XM_011516308.1:c.3707T>A	XP_011514610.1:p.Ile1236Asn
XM_011516309.1:c.3686T>A	XP_011514611.1:p.Ile1229Asn
XM_011516310.1:c.3602T>A	XP_011514612.1:p.Ile1201Asn
XM_011516311.1:c.3578T>A	XP_011514613.1:p.Ile1193Asn
XM_011516312.1:c.3566T>A	XP_011514614.1:p.Ile1189Asn
XM_011516313.1:c.3545T>A	XP_011514615.1:p.Ile1182Asn
XM_011516314.1:c.3728T>A	XP_011514616.1:p.Ile1243Asn
XM_011516315.1:c.3047T>A	XP_011514617.1:p.Ile1016Asn
XM_011516308.3:c.3977T>A	XP_011514610.3:p.Ile1326Asn
XM_011516309.3:c.3956T>A	XP_011514611.3:p.Ile1319Asn
XM_011516310.3:c.3872T>A	XP_011514612.3:p.Ile1291Asn
XM_011516311.3:c.3848T>A	XP_011514613.3:p.Ile1283Asn
XM_011516312.3:c.3836T>A	XP_011514614.3:p.Ile1279Asn
XM_011516313.3:c.3815T>A	XP_011514615.2:p.Ile1272Asn
XM_011516315.3:c.3047T>A	XP_011514617.2:p.Ile1016Asn
XM_017012323.2:c.3707T>A	XP_016867812.1:p.Ile1236Asn
XR_001744809.2:n.4215T>A
NM_000443.4:c.3686T>A MANE Select	NP_000434.1:p.Ile1229Asn
NM_018849.3:c.3707T>A	NP_061337.1:p.Ile1236Asn
NM_018850.3:c.3545T>A	NP_061338.1:p.Ile1182Asn