Canonical Allele Identifier: CA9129069

Gene: C3

Linked Data

• dbSNP Id: rs747129428
• ExAC: 19:6697840 G / C
• gnomAD v2: 19-6697840-G-C
• gnomAD v4: 19-6697829-G-C
• MyVariant Identifiers: chr19:g.6697840G>C (hg19) ; chr19:g.6697829G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6697829G>C , CM000681.2:g.6697829G>C	GRCh38
NC_000019.9:g.6697840G>C , CM000681.1:g.6697840G>C	GRCh37
NC_000019.8:g.6648840G>C	NCBI36
NG_009557.1:g.27823C>G , LRG_27:g.27823C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000695651.1:n.789-35C>G
ENST00000695652.1:c.2318-35C>G	ENSP00000512083.1:n.2318-35C>G
ENST00000695653.1:c.350-35C>G	ENSP00000512084.1:n.350-35C>G
ENST00000695654.1:c.1565-35C>G	ENSP00000512085.1:n.1565-35C>G
ENST00000695655.1:c.1382-35C>G	ENSP00000512086.1:n.1382-35C>G
ENST00000695692.1:n.1805-35C>G
ENST00000245907.11:c.2441-35C>G MANE Select	ENSP00000245907.4:n.2441-35C>G
ENST00000245907.10:c.2441-35C>G	ENSP00000245907.4:n.2441-35C>G
ENST00000602053.1:n.489-35C>G
NM_000064.3:c.2441-35C>G	NP_000055.2:n.2441-35C>G
NM_000064.4:c.2441-35C>G MANE Select	NP_000055.2:n.2441-35C>G