Canonical Allele Identifier: CA1234703
Gene: F5 HGNC NCBI

Linked Data

ClinVar Variation Id: 293641
ClinVar RCV Id: RCV000267623 RCV000322657 RCV000338860 RCV000377228 RCV003595931
dbSNP Id: rs781434840
ExAC: 1:169551754 A / G
gnomAD v2: 1-169551754-A-G
gnomAD v3: 1-169582516-A-G
gnomAD v4: 1-169582516-A-G
MyVariant Identifiers: chr1:g.169551754A>G (hg19) chr1:g.169582516A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169582516A>G , CM000663.2:g.169582516A>G GRCh38
NC_000001.10:g.169551754A>G , CM000663.1:g.169551754A>G GRCh37
NC_000001.9:g.167818378A>G NCBI36
NG_011806.1:g.9016T>C , LRG_553:g.9016T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000367797.9:c.165T>C MANE Select ENSP00000356771.3:p.Asn55=
ENST00000367796.3:c.165T>C ENSP00000356770.3:p.Asn55=
ENST00000367797.7:c.165T>C ENSP00000356771.3:p.Asn55=
NM_000130.4:c.165T>C , LRG_553t1:c.165T>C NP_000121.2:p.Asn55=
XM_017000660.2:c.-162+3713T>C XP_016856149.1:n.-162+3713T>C
NM_000130.5:c.165T>C MANE Select NP_000121.2:p.Asn55=
Search 100 bp 5'
Search 100 bp 3'