Canonical Allele Identifier: CA1233917
Gene: F5 HGNC NCBI

Linked Data

ClinVar Variation Id: 293609
ClinVar RCV Id: RCV000300358 RCV000299114 RCV000361040 RCV000402033 RCV002450839 RCV003949974 RCV003595921
dbSNP Id: rs373880789
ExAC: 1:169510926 G / T
gnomAD v2: 1-169510926-G-T
gnomAD v3: 1-169541688-G-T
gnomAD v4: 1-169541688-G-T
MyVariant Identifiers: chr1:g.169510926G>T (hg19) chr1:g.169541688G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169541688G>T , CM000663.2:g.169541688G>T GRCh38
NC_000001.10:g.169510926G>T , CM000663.1:g.169510926G>T GRCh37
NC_000001.9:g.167777550G>T NCBI36
NG_011806.1:g.49844C>A , LRG_553:g.49844C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000367797.9:c.3402C>A MANE Select ENSP00000356771.3:p.Asp1134Glu
ENST00000367796.3:c.3417C>A ENSP00000356770.3:p.Asp1139Glu
ENST00000367797.7:c.3402C>A ENSP00000356771.3:p.Asp1134Glu
NM_000130.4:c.3402C>A , LRG_553t1:c.3402C>A NP_000121.2:p.Asp1134Glu
XM_017000660.2:c.2991C>A XP_016856149.1:p.Asp997Glu
NM_000130.5:c.3402C>A MANE Select NP_000121.2:p.Asp1134Glu
Search 100 bp 5'
Search 100 bp 3'