Canonical Allele Identifier: CA403615578

Gene: C3

Linked Data

• ClinVar Variation Id: 2831060
• ClinVar RCV Id: RCV003678963
• gnomAD v4: 19-6682224-C-G
• MyVariant Identifiers: chr19:g.6682235C>G (hg19) ; chr19:g.6682224C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6682224C>G , CM000681.2:g.6682224C>G	GRCh38
NC_000019.9:g.6682235C>G , CM000681.1:g.6682235C>G	GRCh37
NC_000019.8:g.6633235C>G	NCBI36
NG_009557.1:g.43428G>C , LRG_27:g.43428G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2526G>C
ENST00000695653.1:c.2087G>C	ENSP00000512084.1:p.Arg696Pro
ENST00000695654.1:c.3203G>C	ENSP00000512085.1:p.Arg1068Pro
ENST00000695689.1:c.149G>C	ENSP00000512101.1:n.149G>C
ENST00000695690.1:n.369G>C
ENST00000695691.1:n.369G>C
ENST00000245907.11:c.4178G>C MANE Select	ENSP00000245907.4:p.Arg1393Pro
ENST00000245907.10:c.4178G>C	ENSP00000245907.4:p.Arg1393Pro
ENST00000596548.1:c.299G>C	ENSP00000469744.1:p.Arg100Pro
ENST00000599899.5:n.1137G>C
ENST00000601008.1:c.242-4266G>C	ENSP00000471384.1:n.242-4266G>C
NM_000064.3:c.4178G>C	NP_000055.2:p.Arg1393Pro
NM_000064.4:c.4178G>C MANE Select	NP_000055.2:p.Arg1393Pro