Canonical Allele Identifier: CA040120
Gene: FUT3 HGNC NCBI
ClinVar RCV:
RCV003982978
ClinVar Variation:
242700
COSMIC:
COSM4986534
dbSNP:
3745635
gnomAD v2:
19:5844343 C / T
gnomAD v3:
19:5844332 C / T
gnomAD v4:
chr19-5844332-C-T
Joint Max Group AF 0.24918496 (AFR)
Genomes Max Group AF 0.24596065 (AFR)
Exomes Max Group AF 0.25040585 (AFR)
MyVariant.info:
GRCh38 chr19:g.5844332C>T
GRCh37 chr19:g.5844343C>T
Revel Score:
ENST00000303225 0.263
ENST00000458379 0.263
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.5844332C>T , CM000681.2:g.5844332C>T GRCh38
NC_000019.9:g.5844343C>T , CM000681.1:g.5844343C>T GRCh37
NC_000019.8:g.5795343C>T NCBI36
NG_007482.1:g.12143G>A
NG_007505.1:g.400G>A
NG_007482.2:g.17791G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000303225.12:c.508G>A ENSP00000305603.5:p.Gly170Ser
ENST00000589620.6:c.508G>A ENSP00000465804.1:p.Gly170Ser
ENST00000303225.11:c.508G>A ENSP00000305603.5:p.Gly170Ser
ENST00000458379.7:c.508G>A ENSP00000416443.1:p.Gly170Ser
ENST00000303225.10:c.508G>A ENSP00000305603.5:p.Gly170Ser
ENST00000458379.6:c.508G>A ENSP00000416443.1:p.Gly170Ser
ENST00000589620.5:c.508G>A ENSP00000465804.1:p.Gly170Ser
ENST00000589918.5:c.508G>A ENSP00000468123.1:p.Gly170Ser
NM_000149.3:c.508G>A NP_000140.1:p.Gly170Ser
NM_001097639.1:c.508G>A NP_001091108.1:p.Gly170Ser
NM_001097640.1:c.508G>A NP_001091109.1:p.Gly170Ser
NM_001097641.1:c.508G>A NP_001091110.1:p.Gly170Ser
XM_011527865.1:c.508G>A XP_011526167.1:p.Gly170Ser
XM_011527866.1:c.508G>A XP_011526168.1:p.Gly170Ser
XM_011527867.1:c.508G>A XP_011526169.1:p.Gly170Ser
NM_000149.4:c.508G>A NP_000140.1:p.Gly170Ser
NM_001097639.3:c.508G>A MANE Select NP_001091108.3:p.Gly170Ser
NM_001097640.3:c.508G>A NP_001091109.3:p.Gly170Ser
NM_001097641.3:c.508G>A NP_001091110.3:p.Gly170Ser
NM_001374740.1:c.508G>A NP_001361669.1:p.Gly170Ser
NM_001382744.1:c.508G>A NP_001369673.1:p.Gly170Ser
NM_001382745.1:c.508G>A NP_001369674.1:p.Gly170Ser
NM_001382746.1:c.508G>A NP_001369675.1:p.Gly170Ser
NM_001382747.1:c.508G>A NP_001369676.1:p.Gly170Ser
NM_001382748.1:c.508G>A NP_001369677.1:p.Gly170Ser
NM_001382749.1:c.508G>A NP_001369678.1:p.Gly170Ser
NM_001382750.1:c.508G>A NP_001369679.1:p.Gly170Ser
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