Canonical Allele Identifier: CA3246650

Gene: C9

Linked Data

• ClinVar Variation Id: 2906933
• ClinVar RCV Id: RCV003734426
• dbSNP Id: rs773166568
• ExAC: 5:39288844 A / G
• gnomAD v2: 5-39288844-A-G
• gnomAD v3: 5-39288742-A-G
• gnomAD v4: 5-39288742-A-G
• MyVariant Identifiers: chr5:g.39288844A>G (hg19) ; chr5:g.39288742A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.39288742A>G , CM000667.2:g.39288742A>G	GRCh38
NC_000005.9:g.39288844A>G , CM000667.1:g.39288844A>G	GRCh37
NC_000005.8:g.39324601A>G	NCBI36
NG_009894.1:g.80812T>C , LRG_32:g.80812T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509186.6:c.1554T>C	ENSP00000512235.1:p.Ser518=
ENST00000695880.1:c.1497T>C	ENSP00000512236.1:p.Ser499=
ENST00000695881.1:c.*288T>C	ENSP00000512237.1:n.*288T>C
ENST00000695882.1:n.776+77T>C
ENST00000263408.5:c.1626T>C MANE Select	ENSP00000263408.4:p.Ser542=
ENST00000263408.4:c.1626T>C	ENSP00000263408.4:p.Ser542=
NM_001737.3:c.1626T>C , LRG_32t1:c.1626T>C	NP_001728.1:p.Ser542=
NM_001737.4:c.1626T>C	NP_001728.1:p.Ser542=
NM_001737.5:c.1626T>C MANE Select	NP_001728.1:p.Ser542=