Canonical Allele Identifier: CA406703126
Gene: FUT1 HGNC NCBI

Linked Data

dbSNP Id: rs747599396
gnomAD v2: 19-49254103-G-A
gnomAD v4: 19-48750846-G-A
MyVariant Identifiers: chr19:g.49254103G>A (hg19) chr19:g.48750846G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48750846G>A , CM000681.2:g.48750846G>A GRCh38
NC_000019.9:g.49254103G>A , CM000681.1:g.49254103G>A GRCh37
NC_000019.8:g.53945915G>A NCBI36
NG_007510.1:g.9545C>T
NG_007510.2:g.9545C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000645652.2:c.436C>T MANE Select ENSP00000494643.1:p.Leu146Phe
ENST00000310160.7:c.436C>T ENSP00000312021.3:p.Leu146Phe
NM_000148.3:c.436C>T NP_000139.1:p.Leu146Phe
XM_006723127.1:c.805C>T XP_006723190.1:p.Leu269Phe
NM_001329877.1:c.436C>T NP_001316806.1:p.Leu146Phe
NM_000148.4:c.436C>T NP_000139.1:p.Leu146Phe
NM_001384359.1:c.436C>T MANE Select NP_001371288.1:p.Leu146Phe
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