Canonical Allele Identifier: CA343131453
Gene: F5 HGNC NCBI

Linked Data

dbSNP Id: rs1200742190
gnomAD v2: 1-169524489-C-T
gnomAD v4: 1-169555251-C-T
MyVariant Identifiers: chr1:g.169524489C>T (hg19) chr1:g.169555251C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169555251C>T , CM000663.2:g.169555251C>T GRCh38
NC_000001.10:g.169524489C>T , CM000663.1:g.169524489C>T GRCh37
NC_000001.9:g.167791113C>T NCBI36
NG_011806.1:g.36281G>A , LRG_553:g.36281G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000367797.9:c.1049G>A MANE Select ENSP00000356771.3:p.Trp350Ter
ENST00000367796.3:c.1049G>A ENSP00000356770.3:p.Trp350Ter
ENST00000367797.7:c.1049G>A ENSP00000356771.3:p.Trp350Ter
NM_000130.4:c.1049G>A , LRG_553t1:c.1049G>A NP_000121.2:p.Trp350Ter
XM_017000660.2:c.638G>A XP_016856149.1:p.Trp213Ter
NM_000130.5:c.1049G>A MANE Select NP_000121.2:p.Trp350Ter
Search 100 bp 5'
Search 100 bp 3'