Canonical Allele Identifier: CA250595
Gene: FUT1 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.48750334G>C
GRCh37 chr19:g.49253591G>C
gnomAD v2:
19:49253591 G / C
gnomAD v3:
19:48750334 G / C
gnomAD v4:
chr19-48750334-G-C
Joint Max Group AF 0.0000122 (NFE)
Genomes Max Group AF 0.00001972 (NFE)
Exomes Max Group AF 0.00001012 (NFE)
ClinVar RCV:
RCV000012922
ClinVar Variation:
12139
dbSNP:
104894686
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48750334G>C , CM000681.2:g.48750334G>C GRCh38
NC_000019.9:g.49253591G>C , CM000681.1:g.49253591G>C GRCh37
NC_000019.8:g.53945403G>C NCBI36
NG_007510.1:g.10057C>G
NG_007510.2:g.10057C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000645652.2:c.948C>G MANE Select ENSP00000494643.1:p.Tyr316Ter
ENST00000310160.7:c.948C>G ENSP00000312021.3:p.Tyr316Ter
NM_000148.3:c.948C>G NP_000139.1:p.Tyr316Ter
XM_006723127.1:c.1317C>G XP_006723190.1:p.Tyr439Ter
NM_001329877.1:c.948C>G NP_001316806.1:p.Tyr316Ter
NM_000148.4:c.948C>G NP_000139.1:p.Tyr316Ter
NM_001384359.1:c.948C>G MANE Select NP_001371288.1:p.Tyr316Ter
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