Canonical Allele Identifier: CA368056734

Gene: ABCB4

Linked Data

• MyVariant Identifiers: chr7:g.87031499C>A (hg19) ; chr7:g.87402183C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87402183C>A , CM000669.2:g.87402183C>A	GRCh38
NC_000007.13:g.87031499C>A , CM000669.1:g.87031499C>A	GRCh37
NC_000007.12:g.86869435C>A	NCBI36
NG_007118.1:g.83250G>T
NG_007118.2:g.83250G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359206.8:c.3753G>T	ENSP00000352135.3:p.Lys1251Asn
ENST00000649586.2:c.3753G>T MANE Select	ENSP00000496956.2:p.Lys1251Asn
ENST00000265723.8:c.3774G>T	ENSP00000265723.4:p.Lys1258Asn
ENST00000358400.7:c.3612G>T	ENSP00000351172.3:p.Lys1204Asn
ENST00000359206.7:c.3753G>T	ENSP00000352135.3:p.Lys1251Asn
ENST00000440025.1:c.187G>T
ENST00000453593.5:c.3612G>T	ENSP00000392983.1:p.Lys1204Asn
ENST00000467983.1:n.365G>T
NM_000443.3:c.3753G>T	NP_000434.1:p.Lys1251Asn
NM_018849.2:c.3774G>T	NP_061337.1:p.Lys1258Asn
NM_018850.2:c.3612G>T	NP_061338.1:p.Lys1204Asn
XM_011516308.1:c.3774G>T	XP_011514610.1:p.Lys1258Asn
XM_011516309.1:c.3753G>T	XP_011514611.1:p.Lys1251Asn
XM_011516310.1:c.3669G>T	XP_011514612.1:p.Lys1223Asn
XM_011516311.1:c.3645G>T	XP_011514613.1:p.Lys1215Asn
XM_011516312.1:c.3633G>T	XP_011514614.1:p.Lys1211Asn
XM_011516313.1:c.3612G>T	XP_011514615.1:p.Lys1204Asn
XM_011516314.1:c.3795G>T	XP_011514616.1:p.Lys1265Asn
XM_011516315.1:c.3114G>T	XP_011514617.1:p.Lys1038Asn
XM_011516308.3:c.4044G>T	XP_011514610.3:p.Lys1348Asn
XM_011516309.3:c.4023G>T	XP_011514611.3:p.Lys1341Asn
XM_011516310.3:c.3939G>T	XP_011514612.3:p.Lys1313Asn
XM_011516311.3:c.3915G>T	XP_011514613.3:p.Lys1305Asn
XM_011516312.3:c.3903G>T	XP_011514614.3:p.Lys1301Asn
XM_011516313.3:c.3882G>T	XP_011514615.2:p.Lys1294Asn
XM_011516315.3:c.3114G>T	XP_011514617.2:p.Lys1038Asn
XM_017012323.2:c.3774G>T	XP_016867812.1:p.Lys1258Asn
XR_001744809.2:n.4282G>T
NM_000443.4:c.3753G>T MANE Select	NP_000434.1:p.Lys1251Asn
NM_018849.3:c.3774G>T	NP_061337.1:p.Lys1258Asn
NM_018850.3:c.3612G>T	NP_061338.1:p.Lys1204Asn