Canonical Allele Identifier: CA343146282

Gene: F5

Linked Data

• MyVariant Identifiers: chr1:g.169510361G>C (hg19) ; chr1:g.169541123G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169541123G>C , CM000663.2:g.169541123G>C	GRCh38
NC_000001.10:g.169510361G>C , CM000663.1:g.169510361G>C	GRCh37
NC_000001.9:g.167776985G>C	NCBI36
NG_011806.1:g.50409C>G , LRG_553:g.50409C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367797.9:c.3967C>G MANE Select	ENSP00000356771.3:p.Pro1323Ala
ENST00000367796.3:c.3982C>G	ENSP00000356770.3:p.Pro1328Ala
ENST00000367797.7:c.3967C>G	ENSP00000356771.3:p.Pro1323Ala
NM_000130.4:c.3967C>G , LRG_553t1:c.3967C>G	NP_000121.2:p.Pro1323Ala
XM_017000660.2:c.3556C>G	XP_016856149.1:p.Pro1186Ala
NM_000130.5:c.3967C>G MANE Select	NP_000121.2:p.Pro1323Ala