Canonical Allele Identifier: CA421738224
Gene: F5 HGNC NCBI

Linked Data

dbSNP Id: rs1433124099
gnomAD v3: 1-169572264-C-T
gnomAD v4: 1-169572264-C-T
MyVariant Identifiers: chr1:g.169541502C>T (hg19) chr1:g.169572264C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169572264C>T , CM000663.2:g.169572264C>T GRCh38
NC_000001.10:g.169541502C>T , CM000663.1:g.169541502C>T GRCh37
NC_000001.9:g.167808126C>T NCBI36
NG_011806.1:g.19268G>A , LRG_553:g.19268G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000367797.9:c.330G>A MANE Select ENSP00000356771.3:p.Leu110=
ENST00000367796.3:c.330G>A ENSP00000356770.3:p.Leu110=
ENST00000367797.7:c.330G>A ENSP00000356771.3:p.Leu110=
NM_000130.4:c.330G>A , LRG_553t1:c.330G>A NP_000121.2:p.Leu110=
XM_017000660.2:c.-82G>A XP_016856149.1:n.-82G>A
NM_000130.5:c.330G>A MANE Select NP_000121.2:p.Leu110=
Search 100 bp 5'
Search 100 bp 3'