Canonical Allele Identifier: CA250597

Gene: FUT1

Linked Data

• ClinVar Variation Id: 12142
• ClinVar RCV Id: RCV000012925 ; RCV000735637
• dbSNP Id: rs28934588
• ExAC: 19:49253814 A / C
• gnomAD v2: 19-49253814-A-C
• gnomAD v3: 19-48750557-A-C
• gnomAD v4: 19-48750557-A-C
• MyVariant Identifiers: chr19:g.49253814A>C (hg19) ; chr19:g.48750557A>C (hg38)
• PubMed: PMID:9299444 ; PMID:9745152

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.48750557A>C , CM000681.2:g.48750557A>C	GRCh38
NC_000019.9:g.49253814A>C , CM000681.1:g.49253814A>C	GRCh37
NC_000019.8:g.53945626A>C	NCBI36
NG_007510.1:g.9834T>G
NG_007510.2:g.9834T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645652.2:c.725T>G MANE Select	ENSP00000494643.1:p.Leu242Arg
ENST00000310160.7:c.725T>G	ENSP00000312021.3:p.Leu242Arg
NM_000148.3:c.725T>G	NP_000139.1:p.Leu242Arg
XM_006723127.1:c.1094T>G	XP_006723190.1:p.Leu365Arg
NM_001329877.1:c.725T>G	NP_001316806.1:p.Leu242Arg
NM_000148.4:c.725T>G	NP_000139.1:p.Leu242Arg
NM_001384359.1:c.725T>G MANE Select	NP_001371288.1:p.Leu242Arg