Canonical Allele Identifier: CA343145758

Gene: F5

Linked Data

• MyVariant Identifiers: chr1:g.169510255G>A (hg19) ; chr1:g.169541017G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169541017G>A , CM000663.2:g.169541017G>A	GRCh38
NC_000001.10:g.169510255G>A , CM000663.1:g.169510255G>A	GRCh37
NC_000001.9:g.167776879G>A	NCBI36
NG_011806.1:g.50515C>T , LRG_553:g.50515C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367797.9:c.4073C>T MANE Select	ENSP00000356771.3:p.Ser1358Phe
ENST00000367796.3:c.4088C>T	ENSP00000356770.3:p.Ser1363Phe
ENST00000367797.7:c.4073C>T	ENSP00000356771.3:p.Ser1358Phe
NM_000130.4:c.4073C>T , LRG_553t1:c.4073C>T	NP_000121.2:p.Ser1358Phe
XM_017000660.2:c.3662C>T	XP_016856149.1:p.Ser1221Phe
NM_000130.5:c.4073C>T MANE Select	NP_000121.2:p.Ser1358Phe