Canonical Allele Identifier: CA9128430

Gene: C3

Linked Data

• ClinVar Variation Id: 988195
• ClinVar RCV Id: RCV001328209 ; RCV002486017 ; RCV003770406
• dbSNP Id: rs191489530
• ExAC: 19:6681954 T / G
• gnomAD v2: 19-6681954-T-G
• gnomAD v3: 19-6681943-T-G
• gnomAD v4: 19-6681943-T-G
• MyVariant Identifiers: chr19:g.6681954T>G (hg19) ; chr19:g.6681943T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6681943T>G , CM000681.2:g.6681943T>G	GRCh38
NC_000019.9:g.6681954T>G , CM000681.1:g.6681954T>G	GRCh37
NC_000019.8:g.6632954T>G	NCBI36
NG_009557.1:g.43709A>C , LRG_27:g.43709A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2696A>C
ENST00000695653.1:c.2257A>C	ENSP00000512084.1:p.Lys753Gln
ENST00000695654.1:c.3373A>C	ENSP00000512085.1:p.Lys1125Gln
ENST00000695689.1:c.319A>C	ENSP00000512101.1:n.319A>C
ENST00000695690.1:n.539A>C
ENST00000695691.1:n.539A>C
ENST00000245907.11:c.4348A>C MANE Select	ENSP00000245907.4:p.Lys1450Gln
ENST00000245907.10:c.4348A>C	ENSP00000245907.4:p.Lys1450Gln
ENST00000596548.1:c.469A>C	ENSP00000469744.1:p.Lys157Gln
ENST00000599899.5:n.1307A>C
ENST00000601008.1:c.242-3985A>C	ENSP00000471384.1:n.242-3985A>C
NM_000064.3:c.4348A>C	NP_000055.2:p.Lys1450Gln
NM_000064.4:c.4348A>C MANE Select	NP_000055.2:p.Lys1450Gln