Canonical Allele Identifier: CA343128582

Gene: F5

Linked Data

• dbSNP Id: rs1265211298
• gnomAD v4: 1-169552646-A-G
• MyVariant Identifiers: chr1:g.169521884A>G (hg19) ; chr1:g.169552646A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169552646A>G , CM000663.2:g.169552646A>G	GRCh38
NC_000001.10:g.169521884A>G , CM000663.1:g.169521884A>G	GRCh37
NC_000001.9:g.167788508A>G	NCBI36
NG_011806.1:g.38886T>C , LRG_553:g.38886T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367797.9:c.1207T>C MANE Select	ENSP00000356771.3:p.Ser403Pro
ENST00000367796.3:c.1207T>C	ENSP00000356770.3:p.Ser403Pro
ENST00000367797.7:c.1207T>C	ENSP00000356771.3:p.Ser403Pro
NM_000130.4:c.1207T>C , LRG_553t1:c.1207T>C	NP_000121.2:p.Ser403Pro
XM_017000660.2:c.796T>C	XP_016856149.1:p.Ser266Pro
NM_000130.5:c.1207T>C MANE Select	NP_000121.2:p.Ser403Pro