Canonical Allele Identifier: CA1234666

Gene: F5

Linked Data

• ClinVar Variation Id: 874768
• ClinVar RCV Id: RCV001098016 ; RCV001098017 ; RCV001099795 ; RCV001099794
• dbSNP Id: rs769639191
• ExAC: 1:169541556 A / C
• gnomAD v2: 1-169541556-A-C
• gnomAD v4: 1-169572318-A-C
• MyVariant Identifiers: chr1:g.169541556A>C (hg19) ; chr1:g.169572318A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169572318A>C , CM000663.2:g.169572318A>C	GRCh38
NC_000001.10:g.169541556A>C , CM000663.1:g.169541556A>C	GRCh37
NC_000001.9:g.167808180A>C	NCBI36
NG_011806.1:g.19214T>G , LRG_553:g.19214T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367797.9:c.276T>G MANE Select	ENSP00000356771.3:p.Ala92=
ENST00000367796.3:c.276T>G	ENSP00000356770.3:p.Ala92=
ENST00000367797.7:c.276T>G	ENSP00000356771.3:p.Ala92=
NM_000130.4:c.276T>G , LRG_553t1:c.276T>G	NP_000121.2:p.Ala92=
XM_017000660.2:c.-136T>G	XP_016856149.1:n.-136T>G
NM_000130.5:c.276T>G MANE Select	NP_000121.2:p.Ala92=