Canonical Allele Identifier: CA403618195

Gene: C3

Linked Data

• dbSNP Id: rs1340720524
• gnomAD v3: 19-6684992-T-C
• gnomAD v4: 19-6684992-T-C
• MyVariant Identifiers: chr19:g.6685003T>C (hg19) ; chr19:g.6684992T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6684992T>C , CM000681.2:g.6684992T>C	GRCh38
NC_000019.9:g.6685003T>C , CM000681.1:g.6685003T>C	GRCh37
NC_000019.8:g.6636003T>C	NCBI36
NG_009557.1:g.40660A>G , LRG_27:g.40660A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2313A>G
ENST00000695653.1:c.1874A>G	ENSP00000512084.1:p.Glu625Gly
ENST00000695654.1:c.2990A>G	ENSP00000512085.1:p.Glu997Gly
ENST00000695690.1:n.156A>G
ENST00000695691.1:n.156A>G
ENST00000245907.11:c.3965A>G MANE Select	ENSP00000245907.4:p.Glu1322Gly
ENST00000245907.10:c.3965A>G	ENSP00000245907.4:p.Glu1322Gly
ENST00000596238.1:n.408A>G
ENST00000596548.1:c.47A>G	ENSP00000469744.1:p.Glu16Gly
ENST00000601008.1:c.241+1754A>G	ENSP00000471384.1:n.241+1754A>G
NM_000064.3:c.3965A>G	NP_000055.2:p.Glu1322Gly
NM_000064.4:c.3965A>G MANE Select	NP_000055.2:p.Glu1322Gly