Canonical Allele Identifier: CA343141914
Gene: F5 HGNC NCBI

Linked Data

dbSNP Id: rs1318995804
gnomAD v2: 1-169541477-A-T
gnomAD v3: 1-169572239-A-T
gnomAD v4: 1-169572239-A-T
MyVariant Identifiers: chr1:g.169541477A>T (hg19) chr1:g.169572239A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169572239A>T , CM000663.2:g.169572239A>T GRCh38
NC_000001.10:g.169541477A>T , CM000663.1:g.169541477A>T GRCh37
NC_000001.9:g.167808101A>T NCBI36
NG_011806.1:g.19293T>A , LRG_553:g.19293T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000367797.9:c.355T>A MANE Select ENSP00000356771.3:p.Tyr119Asn
ENST00000367796.3:c.355T>A ENSP00000356770.3:p.Tyr119Asn
ENST00000367797.7:c.355T>A ENSP00000356771.3:p.Tyr119Asn
NM_000130.4:c.355T>A , LRG_553t1:c.355T>A NP_000121.2:p.Tyr119Asn
XM_017000660.2:c.-57T>A XP_016856149.1:n.-57T>A
NM_000130.5:c.355T>A MANE Select NP_000121.2:p.Tyr119Asn
Search 100 bp 5'
Search 100 bp 3'