Canonical Allele Identifier: CA127040

Gene: C9

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

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