Canonical Allele Identifier: CA505123680

Gene: C3

Linked Data

• gnomAD v4: 19-6686178-G-C
• COSMIC: COSM3960663
• MyVariant Identifiers: chr19:g.6686189G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6686178G>C , CM000681.2:g.6686178G>C	GRCh38
NC_000019.9:g.6686189G>C , CM000681.1:g.6686189G>C	GRCh37
NC_000019.8:g.6637189G>C	NCBI36
NG_009557.1:g.39474C>G , LRG_27:g.39474C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2104C>G
ENST00000695652.1:c.3633C>G	ENSP00000512083.1:p.Val1211=
ENST00000695653.1:c.1665C>G	ENSP00000512084.1:p.Val555=
ENST00000695654.1:c.2781C>G	ENSP00000512085.1:p.Val927=
ENST00000695655.1:c.2697C>G	ENSP00000512086.1:n.2697C>G
ENST00000695692.1:n.3120C>G
ENST00000245907.11:c.3756C>G MANE Select	ENSP00000245907.4:p.Val1252=
ENST00000245907.10:c.3756C>G	ENSP00000245907.4:p.Val1252=
ENST00000596238.1:n.199C>G
ENST00000601008.1:c.241+568C>G	ENSP00000471384.1:n.241+568C>G
NM_000064.3:c.3756C>G	NP_000055.2:p.Val1252=
NM_000064.4:c.3756C>G MANE Select	NP_000055.2:p.Val1252=