Canonical Allele Identifier: CA403614661

Gene: C3

Linked Data

• dbSNP Id: rs1176017907
• gnomAD v4: 19-6681969-C-T
• COSMIC: COSM4288604
• MyVariant Identifiers: chr19:g.6681980C>T (hg19) ; chr19:g.6681969C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6681969C>T , CM000681.2:g.6681969C>T	GRCh38
NC_000019.9:g.6681980C>T , CM000681.1:g.6681980C>T	GRCh37
NC_000019.8:g.6632980C>T	NCBI36
NG_009557.1:g.43683G>A , LRG_27:g.43683G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2670G>A
ENST00000695653.1:c.2231G>A	ENSP00000512084.1:p.Arg744Lys
ENST00000695654.1:c.3347G>A	ENSP00000512085.1:p.Arg1116Lys
ENST00000695689.1:c.293G>A	ENSP00000512101.1:n.293G>A
ENST00000695690.1:n.513G>A
ENST00000695691.1:n.513G>A
ENST00000245907.11:c.4322G>A MANE Select	ENSP00000245907.4:p.Arg1441Lys
ENST00000245907.10:c.4322G>A	ENSP00000245907.4:p.Arg1441Lys
ENST00000596548.1:c.443G>A	ENSP00000469744.1:p.Arg148Lys
ENST00000599899.5:n.1281G>A
ENST00000601008.1:c.242-4011G>A	ENSP00000471384.1:n.242-4011G>A
NM_000064.3:c.4322G>A	NP_000055.2:p.Arg1441Lys
NM_000064.4:c.4322G>A MANE Select	NP_000055.2:p.Arg1441Lys