Canonical Allele Identifier: CA9128581

Gene: C3

Linked Data

• dbSNP Id: rs752147140
• ExAC: 19:6684978 G / C
• gnomAD v2: 19-6684978-G-C
• gnomAD v3: 19-6684967-G-C
• gnomAD v4: 19-6684967-G-C
• MyVariant Identifiers: chr19:g.6684978G>C (hg19) ; chr19:g.6684967G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6684967G>C , CM000681.2:g.6684967G>C	GRCh38
NC_000019.9:g.6684978G>C , CM000681.1:g.6684978G>C	GRCh37
NC_000019.8:g.6635978G>C	NCBI36
NG_009557.1:g.40685C>G , LRG_27:g.40685C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2317+21C>G
ENST00000695653.1:c.1878+21C>G	ENSP00000512084.1:n.1878+21C>G
ENST00000695654.1:c.2994+21C>G	ENSP00000512085.1:n.2994+21C>G
ENST00000695690.1:n.160+21C>G
ENST00000695691.1:n.160+21C>G
ENST00000245907.11:c.3969+21C>G MANE Select	ENSP00000245907.4:n.3969+21C>G
ENST00000245907.10:c.3969+21C>G	ENSP00000245907.4:n.3969+21C>G
ENST00000596238.1:n.412+21C>G
ENST00000596548.1:c.51+21C>G	ENSP00000469744.1:n.51+21C>G
ENST00000601008.1:c.241+1779C>G	ENSP00000471384.1:n.241+1779C>G
NM_000064.3:c.3969+21C>G	NP_000055.2:n.3969+21C>G
NM_000064.4:c.3969+21C>G MANE Select	NP_000055.2:n.3969+21C>G