Canonical Allele Identifier: CA32435333

Gene: F5

Linked Data

• dbSNP Id: rs912092843
• gnomAD v2: 1-169499952-G-A
• gnomAD v3: 1-169530714-G-A
• gnomAD v4: 1-169530714-G-A
• MyVariant Identifiers: chr1:g.169499952G>A (hg19) ; chr1:g.169530714G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169530714G>A , CM000663.2:g.169530714G>A	GRCh38
NC_000001.10:g.169499952G>A , CM000663.1:g.169499952G>A	GRCh37
NC_000001.9:g.167766576G>A	NCBI36
NG_011806.1:g.60818C>T , LRG_553:g.60818C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000367797.9:c.5208+72C>T MANE Select	ENSP00000356771.3:n.5208+72C>T
ENST00000367796.3:c.5223+72C>T	ENSP00000356770.3:n.5223+72C>T
ENST00000367797.7:c.5208+72C>T	ENSP00000356771.3:n.5208+72C>T
NM_000130.4:c.5208+72C>T , LRG_553t1:c.5208+72C>T	NP_000121.2:n.5208+72C>T
XM_017000660.2:c.4797+72C>T	XP_016856149.1:n.4797+72C>T
NM_000130.5:c.5208+72C>T MANE Select	NP_000121.2:n.5208+72C>T