Canonical Allele Identifier: CA3246960
Gene: C9 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.39331711G>A
GRCh37 chr5:g.39331813G>A
gnomAD v2:
5:39331813 G / A
gnomAD v3:
5:39331711 G / A
gnomAD v4:
chr5-39331711-G-A
Joint Max Group AF 0.0005425 (AFR)
Genomes Max Group AF 0.00053921 (AFR)
Exomes Max Group AF 0.0004204 (AFR)
ClinVar Allele:
1314280
ClinVar RCV:
RCV001780705
RCV002544258
ClinVar Variation:
1324000
dbSNP:
146217095
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.39331711G>A , CM000667.2:g.39331711G>A GRCh38
NC_000005.9:g.39331813G>A , CM000667.1:g.39331813G>A GRCh37
NC_000005.8:g.39367570G>A NCBI36
NG_009894.1:g.37843C>T , LRG_32:g.37843C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000509186.6:c.508C>T ENSP00000512235.1:p.Arg170Ter
ENST00000695880.1:c.580C>T ENSP00000512236.1:p.Arg194Ter
ENST00000695881.1:c.580C>T ENSP00000512237.1:p.Arg194Ter
ENST00000695883.1:n.611C>T
ENST00000263408.5:c.580C>T MANE Select ENSP00000263408.4:p.Arg194Ter
ENST00000263408.4:c.580C>T ENSP00000263408.4:p.Arg194Ter
ENST00000509186.5:n.551C>T
NM_001737.3:c.580C>T , LRG_32t1:c.580C>T NP_001728.1:p.Arg194Ter
NM_001737.4:c.580C>T NP_001728.1:p.Arg194Ter
NM_001737.5:c.580C>T MANE Select NP_001728.1:p.Arg194Ter
Search 100 bp 5'
Search 100 bp 3'