Canonical Allele Identifier: CA890928749

Gene: F5

Linked Data

• dbSNP Id: rs1254265450
• gnomAD v4: 1-169552790-G-A
• MyVariant Identifiers: chr1:g.169522028G>A (hg19) ; chr1:g.169552790G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169552790G>A , CM000663.2:g.169552790G>A	GRCh38
NC_000001.10:g.169522028G>A , CM000663.1:g.169522028G>A	GRCh37
NC_000001.9:g.167788652G>A	NCBI36
NG_011806.1:g.38742C>T , LRG_553:g.38742C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367797.9:c.1119-56C>T MANE Select	ENSP00000356771.3:n.1119-56C>T
ENST00000367796.3:c.1119-56C>T	ENSP00000356770.3:n.1119-56C>T
ENST00000367797.7:c.1119-56C>T	ENSP00000356771.3:n.1119-56C>T
NM_000130.4:c.1119-56C>T , LRG_553t1:c.1119-56C>T	NP_000121.2:n.1119-56C>T
XM_017000660.2:c.708-56C>T	XP_016856149.1:n.708-56C>T
NM_000130.5:c.1119-56C>T MANE Select	NP_000121.2:n.1119-56C>T