Canonical Allele Identifier: CA9557831
Gene: FUT1 HGNC NCBI
COSMIC:
COSM148682 (not active)
MyVariant.info:
GRCh38 chr19:g.48751247G>A
GRCh37 chr19:g.49254504G>A
Revel Score:
ENST00000310160 0.029
ENST00000539428 0.029
gnomAD v2:
19:49254504 G / A
gnomAD v3:
19:48751247 G / A
gnomAD v4:
chr19-48751247-G-A
Joint Max Group AF 0.33298033 (EAS)
Genomes Max Group AF 0.27840986 (EAS)
Exomes Max Group AF 0.3387529 (EAS)
ClinVar RCV:
RCV003979269
ClinVar Variation:
3056653
dbSNP:
2071699
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48751247G>A , CM000681.2:g.48751247G>A GRCh38
NC_000019.9:g.49254504G>A , CM000681.1:g.49254504G>A GRCh37
NC_000019.8:g.53946316G>A NCBI36
NG_007510.1:g.9144C>T
NG_033945.1:g.161G>A
NG_007510.2:g.9144C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000645652.2:c.35C>T MANE Select ENSP00000494643.1:p.Ala12Val
ENST00000310160.7:c.35C>T ENSP00000312021.3:p.Ala12Val
NM_000148.3:c.35C>T NP_000139.1:p.Ala12Val
XM_006723127.1:c.404C>T XP_006723190.1:p.Ala135Val
NM_001329877.1:c.35C>T NP_001316806.1:p.Ala12Val
NM_000148.4:c.35C>T NP_000139.1:p.Ala12Val
NM_001384359.1:c.35C>T MANE Select NP_001371288.1:p.Ala12Val
Search 100 bp 5'
Search 100 bp 3'