Canonical Allele Identifier: CA403612656

Gene: C3

Linked Data

• dbSNP Id: rs752086670
• gnomAD v4: 19-6679425-G-C
• MyVariant Identifiers: chr19:g.6679436G>C (hg19) ; chr19:g.6679425G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6679425G>C , CM000681.2:g.6679425G>C	GRCh38
NC_000019.9:g.6679436G>C , CM000681.1:g.6679436G>C	GRCh37
NC_000019.8:g.6630436G>C	NCBI36
NG_009557.1:g.46227C>G , LRG_27:g.46227C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2876C>G
ENST00000695653.1:c.2437C>G	ENSP00000512084.1:p.Leu813Val
ENST00000695654.1:c.3553C>G	ENSP00000512085.1:p.Leu1185Val
ENST00000695689.1:c.499C>G	ENSP00000512101.1:n.499C>G
ENST00000695690.1:n.1593C>G
ENST00000695691.1:n.1389C>G
ENST00000245907.11:c.4528C>G MANE Select	ENSP00000245907.4:p.Leu1510Val
ENST00000245907.10:c.4528C>G	ENSP00000245907.4:p.Leu1510Val
ENST00000599668.1:n.123C>G
ENST00000599899.5:n.1487C>G
ENST00000601008.1:c.242-1467C>G	ENSP00000471384.1:n.242-1467C>G
NM_000064.3:c.4528C>G	NP_000055.2:p.Leu1510Val
NM_000064.4:c.4528C>G MANE Select	NP_000055.2:p.Leu1510Val