Canonical Allele Identifier: CA368056863

Gene: ABCB4

Linked Data

• COSMIC: COSM6241146 ; COSM6241147
• MyVariant Identifiers: chr7:g.87031543G>T (hg19) ; chr7:g.87402227G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87402227G>T , CM000669.2:g.87402227G>T	GRCh38
NC_000007.13:g.87031543G>T , CM000669.1:g.87031543G>T	GRCh37
NC_000007.12:g.86869479G>T	NCBI36
NG_007118.1:g.83206C>A
NG_007118.2:g.83206C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359206.8:c.3709C>A	ENSP00000352135.3:p.Gln1237Lys
ENST00000649586.2:c.3709C>A MANE Select	ENSP00000496956.2:p.Gln1237Lys
ENST00000265723.8:c.3730C>A	ENSP00000265723.4:p.Gln1244Lys
ENST00000358400.7:c.3568C>A	ENSP00000351172.3:p.Gln1190Lys
ENST00000359206.7:c.3709C>A	ENSP00000352135.3:p.Gln1237Lys
ENST00000440025.1:c.143C>A
ENST00000453593.5:c.3568C>A	ENSP00000392983.1:p.Gln1190Lys
ENST00000467983.1:n.321C>A
NM_000443.3:c.3709C>A	NP_000434.1:p.Gln1237Lys
NM_018849.2:c.3730C>A	NP_061337.1:p.Gln1244Lys
NM_018850.2:c.3568C>A	NP_061338.1:p.Gln1190Lys
XM_011516308.1:c.3730C>A	XP_011514610.1:p.Gln1244Lys
XM_011516309.1:c.3709C>A	XP_011514611.1:p.Gln1237Lys
XM_011516310.1:c.3625C>A	XP_011514612.1:p.Gln1209Lys
XM_011516311.1:c.3601C>A	XP_011514613.1:p.Gln1201Lys
XM_011516312.1:c.3589C>A	XP_011514614.1:p.Gln1197Lys
XM_011516313.1:c.3568C>A	XP_011514615.1:p.Gln1190Lys
XM_011516314.1:c.3751C>A	XP_011514616.1:p.Gln1251Lys
XM_011516315.1:c.3070C>A	XP_011514617.1:p.Gln1024Lys
XM_011516308.3:c.4000C>A	XP_011514610.3:p.Gln1334Lys
XM_011516309.3:c.3979C>A	XP_011514611.3:p.Gln1327Lys
XM_011516310.3:c.3895C>A	XP_011514612.3:p.Gln1299Lys
XM_011516311.3:c.3871C>A	XP_011514613.3:p.Gln1291Lys
XM_011516312.3:c.3859C>A	XP_011514614.3:p.Gln1287Lys
XM_011516313.3:c.3838C>A	XP_011514615.2:p.Gln1280Lys
XM_011516315.3:c.3070C>A	XP_011514617.2:p.Gln1024Lys
XM_017012323.2:c.3730C>A	XP_016867812.1:p.Gln1244Lys
XR_001744809.2:n.4238C>A
NM_000443.4:c.3709C>A MANE Select	NP_000434.1:p.Gln1237Lys
NM_018849.3:c.3730C>A	NP_061337.1:p.Gln1244Lys
NM_018850.3:c.3568C>A	NP_061338.1:p.Gln1190Lys