Canonical Allele Identifier: CA9129883

Gene: C3

Linked Data

• ClinVar Variation Id: 381739
• ClinVar RCV Id: RCV000427027 ; RCV001328274 ; RCV003147456 ; RCV003147457 ; RCV003320186 ; RCV003138002
• dbSNP Id: rs539992721
• ExAC: 19:6719296 T / G
• gnomAD v2: 19-6719296-T-G
• gnomAD v3: 19-6719285-T-G
• gnomAD v4: 19-6719285-T-G
• MyVariant Identifiers: chr19:g.6719296T>G (hg19) ; chr19:g.6719285T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6719285T>G , CM000681.2:g.6719285T>G	GRCh38
NC_000019.9:g.6719296T>G , CM000681.1:g.6719296T>G	GRCh37
NC_000019.8:g.6670296T>G	NCBI36
NG_009557.1:g.6367A>C , LRG_27:g.6367A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000594936.2:n.254A>C
ENST00000695652.1:c.70A>C	ENSP00000512083.1:p.Lys24Gln
ENST00000695693.1:c.193A>C	ENSP00000512104.1:p.Lys65Gln
ENST00000245907.11:c.193A>C MANE Select	ENSP00000245907.4:p.Lys65Gln
ENST00000245907.10:c.193A>C	ENSP00000245907.4:p.Lys65Gln
ENST00000594936.1:n.254A>C
ENST00000600744.1:c.70A>C	ENSP00000472044.1:p.Lys24Gln
NM_000064.3:c.193A>C	NP_000055.2:p.Lys65Gln
NM_000064.4:c.193A>C MANE Select	NP_000055.2:p.Lys65Gln