Canonical Allele Identifier: CA059842
Gene: FUT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 221680
ClinVar RCV Id: RCV000207394
dbSNP Id: rs150074056

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48750933G>A , CM000681.2:g.48750933G>A GRCh38
NC_000019.9:g.49254190G>A , CM000681.1:g.49254190G>A GRCh37
NC_000019.8:g.53946002G>A NCBI36
NG_007510.1:g.9458C>T
NG_007510.2:g.9458C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000645652.2:c.349C>T MANE Select ENSP00000494643.1:p.His117Tyr
ENST00000310160.7:c.349C>T ENSP00000312021.3:p.His117Tyr
NM_000148.3:c.349C>T NP_000139.1:p.His117Tyr
XM_006723127.1:c.718C>T XP_006723190.1:p.His240Tyr
NM_001329877.1:c.349C>T NP_001316806.1:p.His117Tyr
NM_000148.4:c.349C>T NP_000139.1:p.His117Tyr
NM_001384359.1:c.349C>T MANE Select NP_001371288.1:p.His117Tyr