Canonical Allele Identifier: CA10608301

Gene: F5

Linked Data

• ClinVar Variation Id: 293564
• ClinVar RCV Id: RCV000280662 ; RCV000293355 ; RCV000319312 ; RCV000350665
• dbSNP Id: rs181328696
• gnomAD v2: 1-169483155-G-T
• gnomAD v3: 1-169513917-G-T
• gnomAD v4: 1-169513917-G-T
• MyVariant Identifiers: chr1:g.169483155G>T (hg19) ; chr1:g.169513917G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169513917G>T , CM000663.2:g.169513917G>T	GRCh38
NC_000001.10:g.169483155G>T , CM000663.1:g.169483155G>T	GRCh37
NC_000001.9:g.167749779G>T	NCBI36
NG_011806.1:g.77615C>A , LRG_553:g.77615C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000367797.9:c.*396C>A MANE Select	ENSP00000356771.3:n.*396C>A
NM_000130.4:c.*396C>A , LRG_553t1:c.*396C>A	NP_000121.2:n.*396C>A
XM_017000660.2:c.*396C>A	XP_016856149.1:n.*396C>A
NM_000130.5:c.*396C>A MANE Select	NP_000121.2:n.*396C>A