Canonical Allele Identifier: CA1233765
Gene: F5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1737514
ClinVar RCV Id: RCV002321433
dbSNP Id: rs779491705
ExAC: 1:169510260 G / A
gnomAD v2: 1-169510260-G-A
gnomAD v4: 1-169541022-G-A
MyVariant Identifiers: chr1:g.169510260G>A (hg19) chr1:g.169541022G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169541022G>A , CM000663.2:g.169541022G>A GRCh38
NC_000001.10:g.169510260G>A , CM000663.1:g.169510260G>A GRCh37
NC_000001.9:g.167776884G>A NCBI36
NG_011806.1:g.50510C>T , LRG_553:g.50510C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000367797.9:c.4068C>T MANE Select ENSP00000356771.3:p.Pro1356=
ENST00000367796.3:c.4083C>T ENSP00000356770.3:p.Pro1361=
ENST00000367797.7:c.4068C>T ENSP00000356771.3:p.Pro1356=
NM_000130.4:c.4068C>T , LRG_553t1:c.4068C>T NP_000121.2:p.Pro1356=
XM_017000660.2:c.3657C>T XP_016856149.1:p.Pro1219=
NM_000130.5:c.4068C>T MANE Select NP_000121.2:p.Pro1356=
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Search 100 bp 3'