Canonical Allele Identifier: CA2580097027
Gene: C3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2127350
ClinVar RCV Id: RCV003055454

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6682041G>C , CM000681.2:g.6682041G>C GRCh38
NC_000019.9:g.6682052G>C , CM000681.1:g.6682052G>C GRCh37
NC_000019.8:g.6633052G>C NCBI36
NG_009557.1:g.43611C>G , LRG_27:g.43611C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2609-11C>G
ENST00000695653.1:c.2170-11C>G ENSP00000512084.1:n.2170-11C>G
ENST00000695654.1:c.3286-11C>G ENSP00000512085.1:n.3286-11C>G
ENST00000695689.1:c.232-11C>G ENSP00000512101.1:n.232-11C>G
ENST00000695690.1:n.452-11C>G
ENST00000695691.1:n.452-11C>G
ENST00000245907.11:c.4261-11C>G MANE Select ENSP00000245907.4:n.4261-11C>G
ENST00000245907.10:c.4261-11C>G ENSP00000245907.4:n.4261-11C>G
ENST00000596548.1:c.382-11C>G ENSP00000469744.1:n.382-11C>G
ENST00000599899.5:n.1220-11C>G
ENST00000601008.1:c.242-4083C>G ENSP00000471384.1:n.242-4083C>G
NM_000064.3:c.4261-11C>G NP_000055.2:n.4261-11C>G
NM_000064.4:c.4261-11C>G MANE Select NP_000055.2:n.4261-11C>G