Canonical Allele Identifier: CA343119210

Gene: F5

Linked Data

• MyVariant Identifiers: chr1:g.169511197G>A (hg19) ; chr1:g.169541959G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169541959G>A , CM000663.2:g.169541959G>A	GRCh38
NC_000001.10:g.169511197G>A , CM000663.1:g.169511197G>A	GRCh37
NC_000001.9:g.167777821G>A	NCBI36
NG_011806.1:g.49573C>T , LRG_553:g.49573C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367797.9:c.3131C>T MANE Select	ENSP00000356771.3:p.Ser1044Phe
ENST00000367796.3:c.3146C>T	ENSP00000356770.3:p.Ser1049Phe
ENST00000367797.7:c.3131C>T	ENSP00000356771.3:p.Ser1044Phe
NM_000130.4:c.3131C>T , LRG_553t1:c.3131C>T	NP_000121.2:p.Ser1044Phe
XM_017000660.2:c.2720C>T	XP_016856149.1:p.Ser907Phe
NM_000130.5:c.3131C>T MANE Select	NP_000121.2:p.Ser1044Phe