Canonical Allele Identifier: CA343145769
Gene: F5 HGNC NCBI

Linked Data

dbSNP Id: rs1360017007
gnomAD v2: 1-169510255-G-T
gnomAD v4: 1-169541017-G-T
MyVariant Identifiers: chr1:g.169510255G>T (hg19) chr1:g.169541017G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169541017G>T , CM000663.2:g.169541017G>T GRCh38
NC_000001.10:g.169510255G>T , CM000663.1:g.169510255G>T GRCh37
NC_000001.9:g.167776879G>T NCBI36
NG_011806.1:g.50515C>A , LRG_553:g.50515C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000367797.9:c.4073C>A MANE Select ENSP00000356771.3:p.Ser1358Tyr
ENST00000367796.3:c.4088C>A ENSP00000356770.3:p.Ser1363Tyr
ENST00000367797.7:c.4073C>A ENSP00000356771.3:p.Ser1358Tyr
NM_000130.4:c.4073C>A , LRG_553t1:c.4073C>A NP_000121.2:p.Ser1358Tyr
XM_017000660.2:c.3662C>A XP_016856149.1:p.Ser1221Tyr
NM_000130.5:c.4073C>A MANE Select NP_000121.2:p.Ser1358Tyr
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