Canonical Allele Identifier: CA343131439

Gene: F5

Linked Data

• MyVariant Identifiers: chr1:g.169524488C>A (hg19) ; chr1:g.169555250C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169555250C>A , CM000663.2:g.169555250C>A	GRCh38
NC_000001.10:g.169524488C>A , CM000663.1:g.169524488C>A	GRCh37
NC_000001.9:g.167791112C>A	NCBI36
NG_011806.1:g.36282G>T , LRG_553:g.36282G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367797.9:c.1050G>T MANE Select	ENSP00000356771.3:p.Trp350Cys
ENST00000367796.3:c.1050G>T	ENSP00000356770.3:p.Trp350Cys
ENST00000367797.7:c.1050G>T	ENSP00000356771.3:p.Trp350Cys
NM_000130.4:c.1050G>T , LRG_553t1:c.1050G>T	NP_000121.2:p.Trp350Cys
XM_017000660.2:c.639G>T	XP_016856149.1:p.Trp213Cys
NM_000130.5:c.1050G>T MANE Select	NP_000121.2:p.Trp350Cys