Canonical Allele Identifier: CA343118746

Gene: F5

Linked Data

• dbSNP Id: rs1659859413
• MyVariant Identifiers: chr1:g.169511055A>C (hg19) ; chr1:g.169541817A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169541817A>C , CM000663.2:g.169541817A>C	GRCh38
NC_000001.10:g.169511055A>C , CM000663.1:g.169511055A>C	GRCh37
NC_000001.9:g.167777679A>C	NCBI36
NG_011806.1:g.49715T>G , LRG_553:g.49715T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000367797.9:c.3273T>G MANE Select	ENSP00000356771.3:p.Phe1091Leu
ENST00000367796.3:c.3288T>G	ENSP00000356770.3:p.Phe1096Leu
ENST00000367797.7:c.3273T>G	ENSP00000356771.3:p.Phe1091Leu
NM_000130.4:c.3273T>G , LRG_553t1:c.3273T>G	NP_000121.2:p.Phe1091Leu
XM_017000660.2:c.2862T>G	XP_016856149.1:p.Phe954Leu
NM_000130.5:c.3273T>G MANE Select	NP_000121.2:p.Phe1091Leu