Canonical Allele Identifier: CA4326700

Gene: ABCB4

Linked Data

• dbSNP Id: rs781315185
• ExAC: 7:87031492 C / T
• gnomAD v2: 7-87031492-C-T
• gnomAD v3: 7-87402176-C-T
• gnomAD v4: 7-87402176-C-T
• MyVariant Identifiers: chr7:g.87031492C>T (hg19) ; chr7:g.87402176C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87402176C>T , CM000669.2:g.87402176C>T	GRCh38
NC_000007.13:g.87031492C>T , CM000669.1:g.87031492C>T	GRCh37
NC_000007.12:g.86869428C>T	NCBI36
NG_007118.1:g.83257G>A
NG_007118.2:g.83257G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359206.8:c.3760G>A	ENSP00000352135.3:p.Gly1254Ser
ENST00000649586.2:c.3760G>A MANE Select	ENSP00000496956.2:p.Gly1254Ser
ENST00000265723.8:c.3781G>A	ENSP00000265723.4:p.Gly1261Ser
ENST00000358400.7:c.3619G>A	ENSP00000351172.3:p.Gly1207Ser
ENST00000359206.7:c.3760G>A	ENSP00000352135.3:p.Gly1254Ser
ENST00000440025.1:c.194G>A
ENST00000453593.5:c.3619G>A	ENSP00000392983.1:p.Gly1207Ser
ENST00000467983.1:n.372G>A
NM_000443.3:c.3760G>A	NP_000434.1:p.Gly1254Ser
NM_018849.2:c.3781G>A	NP_061337.1:p.Gly1261Ser
NM_018850.2:c.3619G>A	NP_061338.1:p.Gly1207Ser
XM_011516308.1:c.3781G>A	XP_011514610.1:p.Gly1261Ser
XM_011516309.1:c.3760G>A	XP_011514611.1:p.Gly1254Ser
XM_011516310.1:c.3676G>A	XP_011514612.1:p.Gly1226Ser
XM_011516311.1:c.3652G>A	XP_011514613.1:p.Gly1218Ser
XM_011516312.1:c.3640G>A	XP_011514614.1:p.Gly1214Ser
XM_011516313.1:c.3619G>A	XP_011514615.1:p.Gly1207Ser
XM_011516314.1:c.3802G>A	XP_011514616.1:p.Gly1268Ser
XM_011516315.1:c.3121G>A	XP_011514617.1:p.Gly1041Ser
XM_011516308.3:c.4051G>A	XP_011514610.3:p.Gly1351Ser
XM_011516309.3:c.4030G>A	XP_011514611.3:p.Gly1344Ser
XM_011516310.3:c.3946G>A	XP_011514612.3:p.Gly1316Ser
XM_011516311.3:c.3922G>A	XP_011514613.3:p.Gly1308Ser
XM_011516312.3:c.3910G>A	XP_011514614.3:p.Gly1304Ser
XM_011516313.3:c.3889G>A	XP_011514615.2:p.Gly1297Ser
XM_011516315.3:c.3121G>A	XP_011514617.2:p.Gly1041Ser
XM_017012323.2:c.3781G>A	XP_016867812.1:p.Gly1261Ser
XR_001744809.2:n.4289G>A
NM_000443.4:c.3760G>A MANE Select	NP_000434.1:p.Gly1254Ser
NM_018849.3:c.3781G>A	NP_061337.1:p.Gly1261Ser
NM_018850.3:c.3619G>A	NP_061338.1:p.Gly1207Ser