Canonical Allele Identifier: CA1234019
Gene: F5 HGNC NCBI

Linked Data

ClinVar Variation Id: 293618
ClinVar RCV Id: RCV000263861 RCV000319057 RCV000353773 RCV000392785 RCV001753749 RCV002436131 RCV003761903
dbSNP Id: rs199507543
ExAC: 1:169511464 C / A
gnomAD v2: 1-169511464-C-A
gnomAD v3: 1-169542226-C-A
gnomAD v4: 1-169542226-C-A
MyVariant Identifiers: chr1:g.169511464C>A (hg19) chr1:g.169542226C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169542226C>A , CM000663.2:g.169542226C>A GRCh38
NC_000001.10:g.169511464C>A , CM000663.1:g.169511464C>A GRCh37
NC_000001.9:g.167778088C>A NCBI36
NG_011806.1:g.49306G>T , LRG_553:g.49306G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000367797.9:c.2864G>T MANE Select ENSP00000356771.3:p.Ser955Ile
ENST00000367796.3:c.2879G>T ENSP00000356770.3:p.Ser960Ile
ENST00000367797.7:c.2864G>T ENSP00000356771.3:p.Ser955Ile
NM_000130.4:c.2864G>T , LRG_553t1:c.2864G>T NP_000121.2:p.Ser955Ile
XM_017000660.2:c.2453G>T XP_016856149.1:p.Ser818Ile
NM_000130.5:c.2864G>T MANE Select NP_000121.2:p.Ser955Ile
Search 100 bp 5'
Search 100 bp 3'