Canonical Allele Identifier: CA1234454
Gene: F5 HGNC NCBI

Linked Data

ClinVar Variation Id: 2567186
ClinVar RCV Id: RCV003278379
dbSNP Id: rs369986546
ExAC: 1:169524534 T / A
gnomAD v2: 1-169524534-T-A
gnomAD v4: 1-169555296-T-A
MyVariant Identifiers: chr1:g.169524534T>A (hg19) chr1:g.169555296T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169555296T>A , CM000663.2:g.169555296T>A GRCh38
NC_000001.10:g.169524534T>A , CM000663.1:g.169524534T>A GRCh37
NC_000001.9:g.167791158T>A NCBI36
NG_011806.1:g.36236A>T , LRG_553:g.36236A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000367797.9:c.1004A>T MANE Select ENSP00000356771.3:p.Asn335Ile
ENST00000367796.3:c.1004A>T ENSP00000356770.3:p.Asn335Ile
ENST00000367797.7:c.1004A>T ENSP00000356771.3:p.Asn335Ile
NM_000130.4:c.1004A>T , LRG_553t1:c.1004A>T NP_000121.2:p.Asn335Ile
XM_017000660.2:c.593A>T XP_016856149.1:p.Asn198Ile
NM_000130.5:c.1004A>T MANE Select NP_000121.2:p.Asn335Ile
Search 100 bp 5'
Search 100 bp 3'