Canonical Allele Identifier: CA368056860

Gene: ABCB4

Linked Data

• gnomAD v4: 7-87402227-G-A
• MyVariant Identifiers: chr7:g.87031543G>A (hg19) ; chr7:g.87402227G>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359206.8:c.3709C>T	ENSP00000352135.3:p.Gln1237Ter
ENST00000649586.2:c.3709C>T MANE Select	ENSP00000496956.2:p.Gln1237Ter
ENST00000265723.8:c.3730C>T	ENSP00000265723.4:p.Gln1244Ter
ENST00000358400.7:c.3568C>T	ENSP00000351172.3:p.Gln1190Ter
ENST00000359206.7:c.3709C>T	ENSP00000352135.3:p.Gln1237Ter
ENST00000440025.1:c.143C>T
ENST00000453593.5:c.3568C>T	ENSP00000392983.1:p.Gln1190Ter
ENST00000467983.1:n.321C>T
NM_000443.3:c.3709C>T	NP_000434.1:p.Gln1237Ter
NM_018849.2:c.3730C>T	NP_061337.1:p.Gln1244Ter
NM_018850.2:c.3568C>T	NP_061338.1:p.Gln1190Ter
XM_011516308.1:c.3730C>T	XP_011514610.1:p.Gln1244Ter
XM_011516309.1:c.3709C>T	XP_011514611.1:p.Gln1237Ter
XM_011516310.1:c.3625C>T	XP_011514612.1:p.Gln1209Ter
XM_011516311.1:c.3601C>T	XP_011514613.1:p.Gln1201Ter
XM_011516312.1:c.3589C>T	XP_011514614.1:p.Gln1197Ter
XM_011516313.1:c.3568C>T	XP_011514615.1:p.Gln1190Ter
XM_011516314.1:c.3751C>T	XP_011514616.1:p.Gln1251Ter
XM_011516315.1:c.3070C>T	XP_011514617.1:p.Gln1024Ter
XM_011516308.3:c.4000C>T	XP_011514610.3:p.Gln1334Ter
XM_011516309.3:c.3979C>T	XP_011514611.3:p.Gln1327Ter
XM_011516310.3:c.3895C>T	XP_011514612.3:p.Gln1299Ter
XM_011516311.3:c.3871C>T	XP_011514613.3:p.Gln1291Ter
XM_011516312.3:c.3859C>T	XP_011514614.3:p.Gln1287Ter
XM_011516313.3:c.3838C>T	XP_011514615.2:p.Gln1280Ter
XM_011516315.3:c.3070C>T	XP_011514617.2:p.Gln1024Ter
XM_017012323.2:c.3730C>T	XP_016867812.1:p.Gln1244Ter
XR_001744809.2:n.4238C>T
NM_000443.4:c.3709C>T MANE Select	NP_000434.1:p.Gln1237Ter
NM_018849.3:c.3730C>T	NP_061337.1:p.Gln1244Ter
NM_018850.3:c.3568C>T	NP_061338.1:p.Gln1190Ter