Canonical Allele Identifier: CA403614407

Gene: C3

Linked Data

• dbSNP Id: rs1303069144
• gnomAD v2: 19-6681953-T-C
• gnomAD v4: 19-6681942-T-C
• MyVariant Identifiers: chr19:g.6681953T>C (hg19) ; chr19:g.6681942T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6681942T>C , CM000681.2:g.6681942T>C	GRCh38
NC_000019.9:g.6681953T>C , CM000681.1:g.6681953T>C	GRCh37
NC_000019.8:g.6632953T>C	NCBI36
NG_009557.1:g.43710A>G , LRG_27:g.43710A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2697A>G
ENST00000695653.1:c.2258A>G	ENSP00000512084.1:p.Lys753Arg
ENST00000695654.1:c.3374A>G	ENSP00000512085.1:p.Lys1125Arg
ENST00000695689.1:c.320A>G	ENSP00000512101.1:n.320A>G
ENST00000695690.1:n.540A>G
ENST00000695691.1:n.540A>G
ENST00000245907.11:c.4349A>G MANE Select	ENSP00000245907.4:p.Lys1450Arg
ENST00000245907.10:c.4349A>G	ENSP00000245907.4:p.Lys1450Arg
ENST00000596548.1:c.470A>G	ENSP00000469744.1:p.Lys157Arg
ENST00000599899.5:n.1308A>G
ENST00000601008.1:c.242-3984A>G	ENSP00000471384.1:n.242-3984A>G
NM_000064.3:c.4349A>G	NP_000055.2:p.Lys1450Arg
NM_000064.4:c.4349A>G MANE Select	NP_000055.2:p.Lys1450Arg