Canonical Allele Identifier: CA1234449
Gene: F5 HGNC NCBI

Linked Data

ClinVar Variation Id: 293632
ClinVar RCV Id: RCV000314889 RCV000311333 RCV000396625 RCV000401373
dbSNP Id: rs201078171
ExAC: 1:169524504 C / T
gnomAD v2: 1-169524504-C-T
gnomAD v3: 1-169555266-C-T
gnomAD v4: 1-169555266-C-T
MyVariant Identifiers: chr1:g.169524504C>T (hg19) chr1:g.169555266C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169555266C>T , CM000663.2:g.169555266C>T GRCh38
NC_000001.10:g.169524504C>T , CM000663.1:g.169524504C>T GRCh37
NC_000001.9:g.167791128C>T NCBI36
NG_011806.1:g.36266G>A , LRG_553:g.36266G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000367797.9:c.1034G>A MANE Select ENSP00000356771.3:p.Arg345Gln
ENST00000367796.3:c.1034G>A ENSP00000356770.3:p.Arg345Gln
ENST00000367797.7:c.1034G>A ENSP00000356771.3:p.Arg345Gln
NM_000130.4:c.1034G>A , LRG_553t1:c.1034G>A NP_000121.2:p.Arg345Gln
XM_017000660.2:c.623G>A XP_016856149.1:p.Arg208Gln
NM_000130.5:c.1034G>A MANE Select NP_000121.2:p.Arg345Gln
Search 100 bp 5'
Search 100 bp 3'