Canonical Allele Identifier: CA127040
Gene: C9 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.39341276G>A
GRCh37 chr5:g.39341378G>A
gnomAD v2:
5:39341378 G / A
gnomAD v3:
5:39341276 G / A
gnomAD v4:
chr5-39341276-G-A
Joint Max Group AF 0.0199058 (EAS)
Genomes Max Group AF 0.01240576 (EAS)
Exomes Max Group AF 0.02058408 (EAS)
ClinVar Allele:
32079
ClinVar RCV:
RCV000018568
RCV001851916
ClinVar Variation:
17040
dbSNP:
121909592
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.39341276G>A , CM000667.2:g.39341276G>A GRCh38
NC_000005.9:g.39341378G>A , CM000667.1:g.39341378G>A GRCh37
NC_000005.8:g.39377135G>A NCBI36
NG_009894.1:g.28278C>T , LRG_32:g.28278C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000509186.6:c.274C>T ENSP00000512235.1:p.Arg92Ter
ENST00000695880.1:c.346C>T ENSP00000512236.1:p.Arg116Ter
ENST00000695881.1:c.346C>T ENSP00000512237.1:p.Arg116Ter
ENST00000695883.1:n.377C>T
ENST00000263408.5:c.346C>T MANE Select ENSP00000263408.4:p.Arg116Ter
ENST00000263408.4:c.346C>T ENSP00000263408.4:p.Arg116Ter
ENST00000467285.1:n.377C>T
ENST00000483232.6:n.388C>T
ENST00000509186.5:n.317C>T
NM_001737.3:c.346C>T , LRG_32t1:c.346C>T NP_001728.1:p.Arg116Ter
NM_001737.4:c.346C>T NP_001728.1:p.Arg116Ter
NM_001737.5:c.346C>T MANE Select NP_001728.1:p.Arg116Ter
Search 100 bp 5'
Search 100 bp 3'