Canonical Allele Identifier: CA1234405
Gene: F5 HGNC NCBI

Linked Data

ClinVar Variation Id: 2890338
ClinVar RCV Id: RCV003763709
dbSNP Id: rs773539656
ExAC: 1:169521954 A / G
gnomAD v2: 1-169521954-A-G
gnomAD v4: 1-169552716-A-G
MyVariant Identifiers: chr1:g.169521954A>G (hg19) chr1:g.169552716A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169552716A>G , CM000663.2:g.169552716A>G GRCh38
NC_000001.10:g.169521954A>G , CM000663.1:g.169521954A>G GRCh37
NC_000001.9:g.167788578A>G NCBI36
NG_011806.1:g.38816T>C , LRG_553:g.38816T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000367797.9:c.1137T>C MANE Select ENSP00000356771.3:p.His379=
ENST00000367796.3:c.1137T>C ENSP00000356770.3:p.His379=
ENST00000367797.7:c.1137T>C ENSP00000356771.3:p.His379=
NM_000130.4:c.1137T>C , LRG_553t1:c.1137T>C NP_000121.2:p.His379=
XM_017000660.2:c.726T>C XP_016856149.1:p.His242=
NM_000130.5:c.1137T>C MANE Select NP_000121.2:p.His379=
Search 100 bp 5'
Search 100 bp 3'