Canonical Allele Identifier: CA368056894

Gene: ABCB4

Linked Data

• MyVariant Identifiers: chr7:g.87031551G>C (hg19) ; chr7:g.87402235G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87402235G>C , CM000669.2:g.87402235G>C	GRCh38
NC_000007.13:g.87031551G>C , CM000669.1:g.87031551G>C	GRCh37
NC_000007.12:g.86869487G>C	NCBI36
NG_007118.1:g.83198C>G
NG_007118.2:g.83198C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359206.8:c.3701C>G	ENSP00000352135.3:p.Ser1234Cys
ENST00000649586.2:c.3701C>G MANE Select	ENSP00000496956.2:p.Ser1234Cys
ENST00000265723.8:c.3722C>G	ENSP00000265723.4:p.Ser1241Cys
ENST00000358400.7:c.3560C>G	ENSP00000351172.3:p.Ser1187Cys
ENST00000359206.7:c.3701C>G	ENSP00000352135.3:p.Ser1234Cys
ENST00000440025.1:c.135C>G
ENST00000453593.5:c.3560C>G	ENSP00000392983.1:p.Ser1187Cys
ENST00000467983.1:n.313C>G
NM_000443.3:c.3701C>G	NP_000434.1:p.Ser1234Cys
NM_018849.2:c.3722C>G	NP_061337.1:p.Ser1241Cys
NM_018850.2:c.3560C>G	NP_061338.1:p.Ser1187Cys
XM_011516308.1:c.3722C>G	XP_011514610.1:p.Ser1241Cys
XM_011516309.1:c.3701C>G	XP_011514611.1:p.Ser1234Cys
XM_011516310.1:c.3617C>G	XP_011514612.1:p.Ser1206Cys
XM_011516311.1:c.3593C>G	XP_011514613.1:p.Ser1198Cys
XM_011516312.1:c.3581C>G	XP_011514614.1:p.Ser1194Cys
XM_011516313.1:c.3560C>G	XP_011514615.1:p.Ser1187Cys
XM_011516314.1:c.3743C>G	XP_011514616.1:p.Ser1248Cys
XM_011516315.1:c.3062C>G	XP_011514617.1:p.Ser1021Cys
XM_011516308.3:c.3992C>G	XP_011514610.3:p.Ser1331Cys
XM_011516309.3:c.3971C>G	XP_011514611.3:p.Ser1324Cys
XM_011516310.3:c.3887C>G	XP_011514612.3:p.Ser1296Cys
XM_011516311.3:c.3863C>G	XP_011514613.3:p.Ser1288Cys
XM_011516312.3:c.3851C>G	XP_011514614.3:p.Ser1284Cys
XM_011516313.3:c.3830C>G	XP_011514615.2:p.Ser1277Cys
XM_011516315.3:c.3062C>G	XP_011514617.2:p.Ser1021Cys
XM_017012323.2:c.3722C>G	XP_016867812.1:p.Ser1241Cys
XR_001744809.2:n.4230C>G
NM_000443.4:c.3701C>G MANE Select	NP_000434.1:p.Ser1234Cys
NM_018849.3:c.3722C>G	NP_061337.1:p.Ser1241Cys
NM_018850.3:c.3560C>G	NP_061338.1:p.Ser1187Cys