Canonical Allele Identifier: CA32388799
Gene: F5 HGNC NCBI

Linked Data

dbSNP Id: rs983631606
gnomAD v2: 1-169522007-C-G
gnomAD v3: 1-169552769-C-G
gnomAD v4: 1-169552769-C-G
MyVariant Identifiers: chr1:g.169522007C>G (hg19) chr1:g.169552769C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169552769C>G , CM000663.2:g.169552769C>G GRCh38
NC_000001.10:g.169522007C>G , CM000663.1:g.169522007C>G GRCh37
NC_000001.9:g.167788631C>G NCBI36
NG_011806.1:g.38763G>C , LRG_553:g.38763G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000367797.9:c.1119-35G>C MANE Select ENSP00000356771.3:n.1119-35G>C
ENST00000367796.3:c.1119-35G>C ENSP00000356770.3:n.1119-35G>C
ENST00000367797.7:c.1119-35G>C ENSP00000356771.3:n.1119-35G>C
NM_000130.4:c.1119-35G>C , LRG_553t1:c.1119-35G>C NP_000121.2:n.1119-35G>C
XM_017000660.2:c.708-35G>C XP_016856149.1:n.708-35G>C
NM_000130.5:c.1119-35G>C MANE Select NP_000121.2:n.1119-35G>C
Search 100 bp 5'
Search 100 bp 3'