Canonical Allele Identifier: CA526711550
Gene: F5 HGNC NCBI

Linked Data

dbSNP Id: rs1380305218
gnomAD v2: 1-169521467-G-T
gnomAD v3: 1-169552229-G-T
gnomAD v4: 1-169552229-G-T
MyVariant Identifiers: chr1:g.169521467G>T (hg19) chr1:g.169552229G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169552229G>T , CM000663.2:g.169552229G>T GRCh38
NC_000001.10:g.169521467G>T , CM000663.1:g.169521467G>T GRCh37
NC_000001.9:g.167788091G>T NCBI36
NG_011806.1:g.39303C>A , LRG_553:g.39303C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000367797.9:c.1296+328C>A MANE Select ENSP00000356771.3:n.1296+328C>A
ENST00000367796.3:c.1296+328C>A ENSP00000356770.3:n.1296+328C>A
ENST00000367797.7:c.1296+328C>A ENSP00000356771.3:n.1296+328C>A
NM_000130.4:c.1296+328C>A , LRG_553t1:c.1296+328C>A NP_000121.2:n.1296+328C>A
XM_017000660.2:c.885+328C>A XP_016856149.1:n.885+328C>A
NM_000130.5:c.1296+328C>A MANE Select NP_000121.2:n.1296+328C>A
Search 100 bp 5'
Search 100 bp 3'