Canonical Allele Identifier: CA32385369
Gene: F5 HGNC NCBI

Linked Data

ClinVar Variation Id: 2884601
ClinVar RCV Id: RCV003763603
dbSNP Id: rs549850330
gnomAD v3: 1-169541895-C-T
gnomAD v4: 1-169541895-C-T
MyVariant Identifiers: chr1:g.169511133C>T (hg19) chr1:g.169541895C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169541895C>T , CM000663.2:g.169541895C>T GRCh38
NC_000001.10:g.169511133C>T , CM000663.1:g.169511133C>T GRCh37
NC_000001.9:g.167777757C>T NCBI36
NG_011806.1:g.49637G>A , LRG_553:g.49637G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000367797.9:c.3195G>A MANE Select ENSP00000356771.3:p.Lys1065=
ENST00000367796.3:c.3210G>A ENSP00000356770.3:p.Lys1070=
ENST00000367797.7:c.3195G>A ENSP00000356771.3:p.Lys1065=
NM_000130.4:c.3195G>A , LRG_553t1:c.3195G>A NP_000121.2:p.Lys1065=
XM_017000660.2:c.2784G>A XP_016856149.1:p.Lys928=
NM_000130.5:c.3195G>A MANE Select NP_000121.2:p.Lys1065=
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