Canonical Allele Identifier: CA343142116

Gene: F5

Linked Data

• dbSNP Id: rs1305895983
• gnomAD v4: 1-169572296-C-A
• MyVariant Identifiers: chr1:g.169541534C>A (hg19) ; chr1:g.169572296C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169572296C>A , CM000663.2:g.169572296C>A	GRCh38
NC_000001.10:g.169541534C>A , CM000663.1:g.169541534C>A	GRCh37
NC_000001.9:g.167808158C>A	NCBI36
NG_011806.1:g.19236G>T , LRG_553:g.19236G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367797.9:c.298G>T MANE Select	ENSP00000356771.3:p.Val100Phe
ENST00000367796.3:c.298G>T	ENSP00000356770.3:p.Val100Phe
ENST00000367797.7:c.298G>T	ENSP00000356771.3:p.Val100Phe
NM_000130.4:c.298G>T , LRG_553t1:c.298G>T	NP_000121.2:p.Val100Phe
XM_017000660.2:c.-114G>T	XP_016856149.1:n.-114G>T
NM_000130.5:c.298G>T MANE Select	NP_000121.2:p.Val100Phe