Canonical Allele Identifier: CA9128591

Gene: C3

Linked Data

• ClinVar Variation Id: 894696
• ClinVar RCV Id: RCV001136123 ; RCV001136125 ; RCV001136124 ; RCV001873534
• dbSNP Id: rs769873702
• ExAC: 19:6685015 A / C
• gnomAD v2: 19-6685015-A-C
• gnomAD v3: 19-6685004-A-C
• gnomAD v4: 19-6685004-A-C
• MyVariant Identifiers: chr19:g.6685015A>C (hg19) ; chr19:g.6685004A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6685004A>C , CM000681.2:g.6685004A>C	GRCh38
NC_000019.9:g.6685015A>C , CM000681.1:g.6685015A>C	GRCh37
NC_000019.8:g.6636015A>C	NCBI36
NG_009557.1:g.40648T>G , LRG_27:g.40648T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2301T>G
ENST00000695653.1:c.1862T>G	ENSP00000512084.1:p.Leu621Arg
ENST00000695654.1:c.2978T>G	ENSP00000512085.1:p.Leu993Arg
ENST00000695690.1:n.144T>G
ENST00000695691.1:n.144T>G
ENST00000245907.11:c.3953T>G MANE Select	ENSP00000245907.4:p.Leu1318Arg
ENST00000245907.10:c.3953T>G	ENSP00000245907.4:p.Leu1318Arg
ENST00000596238.1:n.396T>G
ENST00000596548.1:c.35T>G	ENSP00000469744.1:p.Leu12Arg
ENST00000601008.1:c.241+1742T>G	ENSP00000471384.1:n.241+1742T>G
NM_000064.3:c.3953T>G	NP_000055.2:p.Leu1318Arg
NM_000064.4:c.3953T>G MANE Select	NP_000055.2:p.Leu1318Arg