Canonical Allele Identifier: CA127040
Gene: C9 HGNC NCBI

Linked Data

ClinVar Variation Id: 17040
ClinVar RCV Id: RCV000018568 RCV001851916
dbSNP Id: rs121909592
ExAC: 5:39341378 G / A
gnomAD v2: 5-39341378-G-A
gnomAD v3: 5-39341276-G-A
gnomAD v4: 5-39341276-G-A
MyVariant Identifiers: chr5:g.39341378G>A (hg19) chr5:g.39341276G>A (hg38)
PubMed: PMID:9570574 PMID:9703418 PMID:11359403 PMID:12596049
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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'