Canonical Allele Identifier: CA1233452
Gene: F5 HGNC NCBI

Linked Data

ClinVar Variation Id: 627095
ClinVar RCV Id: RCV000851824 RCV003596550
dbSNP Id: rs377129476
ExAC: 1:169495234 A / G
gnomAD v2: 1-169495234-A-G
gnomAD v3: 1-169525996-A-G
gnomAD v4: 1-169525996-A-G
MyVariant Identifiers: chr1:g.169495234A>G (hg19) chr1:g.169525996A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169525996A>G , CM000663.2:g.169525996A>G GRCh38
NC_000001.10:g.169495234A>G , CM000663.1:g.169495234A>G GRCh37
NC_000001.9:g.167761858A>G NCBI36
NG_011806.1:g.65536T>C , LRG_553:g.65536T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000367797.9:c.5621T>C MANE Select ENSP00000356771.3:p.Met1874Thr
ENST00000367796.3:c.5636T>C ENSP00000356770.3:p.Met1879Thr
ENST00000367797.7:c.5621T>C ENSP00000356771.3:p.Met1874Thr
NM_000130.4:c.5621T>C , LRG_553t1:c.5621T>C NP_000121.2:p.Met1874Thr
XM_017000660.2:c.5210T>C XP_016856149.1:p.Met1737Thr
NM_000130.5:c.5621T>C MANE Select NP_000121.2:p.Met1874Thr
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