Canonical Allele Identifier: CA10608284
Gene: F5 HGNC NCBI

Linked Data

ClinVar Variation Id: 293549
ClinVar RCV Id: RCV000306420 RCV000314666 RCV000369332 RCV000404344
dbSNP Id: rs886045536
gnomAD v2: 1-169482119-G-A
gnomAD v3: 1-169512881-G-A
gnomAD v4: 1-169512881-G-A
MyVariant Identifiers: chr1:g.169482119G>A (hg19) chr1:g.169512881G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169512881G>A , CM000663.2:g.169512881G>A GRCh38
NC_000001.10:g.169482119G>A , CM000663.1:g.169482119G>A GRCh37
NC_000001.9:g.167748743G>A NCBI36
NG_011806.1:g.78651C>T , LRG_553:g.78651C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000367797.9:c.*1432C>T MANE Select ENSP00000356771.3:n.*1432C>T
NM_000130.4:c.*1432C>T , LRG_553t1:c.*1432C>T NP_000121.2:n.*1432C>T
XM_017000660.2:c.*1432C>T XP_016856149.1:n.*1432C>T
NM_000130.5:c.*1432C>T MANE Select NP_000121.2:n.*1432C>T
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