Canonical Allele Identifier: CA1234457

Gene: F5

Linked Data

• dbSNP Id: rs574459300
• ExAC: 1:169524552 C / A
• gnomAD v2: 1-169524552-C-A
• gnomAD v3: 1-169555314-C-A
• gnomAD v4: 1-169555314-C-A
• MyVariant Identifiers: chr1:g.169524552C>A (hg19) ; chr1:g.169555314C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169555314C>A , CM000663.2:g.169555314C>A	GRCh38
NC_000001.10:g.169524552C>A , CM000663.1:g.169524552C>A	GRCh37
NC_000001.9:g.167791176C>A	NCBI36
NG_011806.1:g.36218G>T , LRG_553:g.36218G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367797.9:c.986G>T MANE Select	ENSP00000356771.3:p.Cys329Phe
ENST00000367796.3:c.986G>T	ENSP00000356770.3:p.Cys329Phe
ENST00000367797.7:c.986G>T	ENSP00000356771.3:p.Cys329Phe
NM_000130.4:c.986G>T , LRG_553t1:c.986G>T	NP_000121.2:p.Cys329Phe
XM_017000660.2:c.575G>T	XP_016856149.1:p.Cys192Phe
NM_000130.5:c.986G>T MANE Select	NP_000121.2:p.Cys329Phe