Canonical Allele Identifier: CA343129440

Gene: F5

Linked Data

• MyVariant Identifiers: chr1:g.169498875G>A (hg19) ; chr1:g.169529637G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169529637G>A , CM000663.2:g.169529637G>A	GRCh38
NC_000001.10:g.169498875G>A , CM000663.1:g.169498875G>A	GRCh37
NC_000001.9:g.167765499G>A	NCBI36
NG_011806.1:g.61895C>T , LRG_553:g.61895C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000367797.9:c.5390C>T MANE Select	ENSP00000356771.3:p.Ser1797Leu
ENST00000367796.3:c.5405C>T	ENSP00000356770.3:p.Ser1802Leu
ENST00000367797.7:c.5390C>T	ENSP00000356771.3:p.Ser1797Leu
NM_000130.4:c.5390C>T , LRG_553t1:c.5390C>T	NP_000121.2:p.Ser1797Leu
XM_017000660.2:c.4979C>T	XP_016856149.1:p.Ser1660Leu
NM_000130.5:c.5390C>T MANE Select	NP_000121.2:p.Ser1797Leu