Canonical Allele Identifier: CA343118402
Gene: F5 HGNC NCBI

Linked Data

dbSNP Id: rs1342816011
gnomAD v2: 1-169510981-C-A
gnomAD v4: 1-169541743-C-A
MyVariant Identifiers: chr1:g.169510981C>A (hg19) chr1:g.169541743C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169541743C>A , CM000663.2:g.169541743C>A GRCh38
NC_000001.10:g.169510981C>A , CM000663.1:g.169510981C>A GRCh37
NC_000001.9:g.167777605C>A NCBI36
NG_011806.1:g.49789G>T , LRG_553:g.49789G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000367797.9:c.3347G>T MANE Select ENSP00000356771.3:p.Gly1116Val
ENST00000367796.3:c.3362G>T ENSP00000356770.3:p.Gly1121Val
ENST00000367797.7:c.3347G>T ENSP00000356771.3:p.Gly1116Val
NM_000130.4:c.3347G>T , LRG_553t1:c.3347G>T NP_000121.2:p.Gly1116Val
XM_017000660.2:c.2936G>T XP_016856149.1:p.Gly979Val
NM_000130.5:c.3347G>T MANE Select NP_000121.2:p.Gly1116Val
Search 100 bp 5'
Search 100 bp 3'