Canonical Allele Identifier: CA343129336

Gene: F5

Linked Data

• MyVariant Identifiers: chr1:g.169521961G>C (hg19) ; chr1:g.169552723G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169552723G>C , CM000663.2:g.169552723G>C	GRCh38
NC_000001.10:g.169521961G>C , CM000663.1:g.169521961G>C	GRCh37
NC_000001.9:g.167788585G>C	NCBI36
NG_011806.1:g.38809C>G , LRG_553:g.38809C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367797.9:c.1130C>G MANE Select	ENSP00000356771.3:p.Ser377Cys
ENST00000367796.3:c.1130C>G	ENSP00000356770.3:p.Ser377Cys
ENST00000367797.7:c.1130C>G	ENSP00000356771.3:p.Ser377Cys
NM_000130.4:c.1130C>G , LRG_553t1:c.1130C>G	NP_000121.2:p.Ser377Cys
XM_017000660.2:c.719C>G	XP_016856149.1:p.Ser240Cys
NM_000130.5:c.1130C>G MANE Select	NP_000121.2:p.Ser377Cys