Canonical Allele Identifier: CA343124908
Gene: F5 HGNC NCBI

Linked Data

dbSNP Id: rs1187761390
gnomAD v2: 1-169495193-C-G
gnomAD v4: 1-169525955-C-G
MyVariant Identifiers: chr1:g.169495193C>G (hg19) chr1:g.169525955C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169525955C>G , CM000663.2:g.169525955C>G GRCh38
NC_000001.10:g.169495193C>G , CM000663.1:g.169495193C>G GRCh37
NC_000001.9:g.167761817C>G NCBI36
NG_011806.1:g.65577G>C , LRG_553:g.65577G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000367797.9:c.5662G>C MANE Select ENSP00000356771.3:p.Val1888Leu
ENST00000367796.3:c.5677G>C ENSP00000356770.3:p.Val1893Leu
ENST00000367797.7:c.5662G>C ENSP00000356771.3:p.Val1888Leu
NM_000130.4:c.5662G>C , LRG_553t1:c.5662G>C NP_000121.2:p.Val1888Leu
XM_017000660.2:c.5251G>C XP_016856149.1:p.Val1751Leu
NM_000130.5:c.5662G>C MANE Select NP_000121.2:p.Val1888Leu
Search 100 bp 5'
Search 100 bp 3'