Canonical Allele Identifier: CA403618414

Gene: C3

Linked Data

• MyVariant Identifiers: chr19:g.6685072T>C (hg19) ; chr19:g.6685061T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6685061T>C , CM000681.2:g.6685061T>C	GRCh38
NC_000019.9:g.6685072T>C , CM000681.1:g.6685072T>C	GRCh37
NC_000019.8:g.6636072T>C	NCBI36
NG_009557.1:g.40591A>G , LRG_27:g.40591A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2244A>G
ENST00000695653.1:c.1805A>G	ENSP00000512084.1:p.Gln602Arg
ENST00000695654.1:c.2921A>G	ENSP00000512085.1:p.Gln974Arg
ENST00000695690.1:n.87A>G
ENST00000695691.1:n.87A>G
ENST00000245907.11:c.3896A>G MANE Select	ENSP00000245907.4:p.Gln1299Arg
ENST00000245907.10:c.3896A>G	ENSP00000245907.4:p.Gln1299Arg
ENST00000596238.1:n.339A>G
ENST00000601008.1:c.241+1685A>G	ENSP00000471384.1:n.241+1685A>G
NM_000064.3:c.3896A>G	NP_000055.2:p.Gln1299Arg
NM_000064.4:c.3896A>G MANE Select	NP_000055.2:p.Gln1299Arg