Canonical Allele Identifier: CA403612125

Gene: C3

Linked Data

• gnomAD v4: 19-6679170-G-C
• MyVariant Identifiers: chr19:g.6679181G>C (hg19) ; chr19:g.6679170G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6679170G>C , CM000681.2:g.6679170G>C	GRCh38
NC_000019.9:g.6679181G>C , CM000681.1:g.6679181G>C	GRCh37
NC_000019.8:g.6630181G>C	NCBI36
NG_009557.1:g.46482C>G , LRG_27:g.46482C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2933C>G
ENST00000695653.1:c.2494C>G	ENSP00000512084.1:p.Leu832Val
ENST00000695654.1:c.3610C>G	ENSP00000512085.1:p.Leu1204Val
ENST00000695689.1:c.556C>G	ENSP00000512101.1:n.556C>G
ENST00000695690.1:n.1650C>G
ENST00000695691.1:n.1446C>G
ENST00000245907.11:c.4585C>G MANE Select	ENSP00000245907.4:p.Leu1529Val
ENST00000245907.10:c.4585C>G	ENSP00000245907.4:p.Leu1529Val
ENST00000599668.1:n.205C>G
ENST00000599899.5:n.1544C>G
ENST00000601008.1:c.242-1212C>G	ENSP00000471384.1:n.242-1212C>G
ENST00000602229.1:c.32C>G
NM_000064.3:c.4585C>G	NP_000055.2:p.Leu1529Val
NM_000064.4:c.4585C>G MANE Select	NP_000055.2:p.Leu1529Val