Canonical Allele Identifier: CA1233448

Gene: F5

Linked Data

• ClinVar Variation Id: 2886810
• ClinVar RCV Id: RCV003763649
• dbSNP Id: rs371625729
• ExAC: 1:169495205 G / A
• gnomAD v2: 1-169495205-G-A
• gnomAD v3: 1-169525967-G-A
• gnomAD v4: 1-169525967-G-A
• MyVariant Identifiers: chr1:g.169495205G>A (hg19) ; chr1:g.169525967G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169525967G>A , CM000663.2:g.169525967G>A	GRCh38
NC_000001.10:g.169495205G>A , CM000663.1:g.169495205G>A	GRCh37
NC_000001.9:g.167761829G>A	NCBI36
NG_011806.1:g.65565C>T , LRG_553:g.65565C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367797.9:c.5650C>T MANE Select	ENSP00000356771.3:p.Leu1884=
ENST00000367796.3:c.5665C>T	ENSP00000356770.3:p.Leu1889=
ENST00000367797.7:c.5650C>T	ENSP00000356771.3:p.Leu1884=
NM_000130.4:c.5650C>T , LRG_553t1:c.5650C>T	NP_000121.2:p.Leu1884=
XM_017000660.2:c.5239C>T	XP_016856149.1:p.Leu1747=
NM_000130.5:c.5650C>T MANE Select	NP_000121.2:p.Leu1884=