Canonical Allele Identifier: CA343142230
Gene: F5 HGNC NCBI

Linked Data

dbSNP Id: rs1487220504
gnomAD v2: 1-169541562-T-A
gnomAD v4: 1-169572324-T-A
MyVariant Identifiers: chr1:g.169541562T>A (hg19) chr1:g.169572324T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169572324T>A , CM000663.2:g.169572324T>A GRCh38
NC_000001.10:g.169541562T>A , CM000663.1:g.169541562T>A GRCh37
NC_000001.9:g.167808186T>A NCBI36
NG_011806.1:g.19208A>T , LRG_553:g.19208A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000367797.9:c.270A>T MANE Select ENSP00000356771.3:p.Leu90Phe
ENST00000367796.3:c.270A>T ENSP00000356770.3:p.Leu90Phe
ENST00000367797.7:c.270A>T ENSP00000356771.3:p.Leu90Phe
NM_000130.4:c.270A>T , LRG_553t1:c.270A>T NP_000121.2:p.Leu90Phe
XM_017000660.2:c.-142A>T XP_016856149.1:n.-142A>T
NM_000130.5:c.270A>T MANE Select NP_000121.2:p.Leu90Phe
Search 100 bp 5'
Search 100 bp 3'