Canonical Allele Identifier: CA304771620
Gene: C3 HGNC NCBI

Linked Data

dbSNP Id: rs879060382
gnomAD v3: 19-6679298-C-G
gnomAD v4: 19-6679298-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6679298C>G , CM000681.2:g.6679298C>G GRCh38
NC_000019.9:g.6679309C>G , CM000681.1:g.6679309C>G GRCh37
NC_000019.8:g.6630309C>G NCBI36
NG_009557.1:g.46354G>C , LRG_27:g.46354G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2895-90G>C
ENST00000695653.1:c.2456-90G>C ENSP00000512084.1:n.2456-90G>C
ENST00000695654.1:c.3572-90G>C ENSP00000512085.1:n.3572-90G>C
ENST00000695689.1:c.518-90G>C ENSP00000512101.1:n.518-90G>C
ENST00000695690.1:n.1612-90G>C
ENST00000695691.1:n.1408-90G>C
ENST00000245907.11:c.4547-90G>C MANE Select ENSP00000245907.4:n.4547-90G>C
ENST00000245907.10:c.4547-90G>C ENSP00000245907.4:n.4547-90G>C
ENST00000599668.1:n.166+84G>C
ENST00000599899.5:n.1506-90G>C
ENST00000601008.1:c.242-1340G>C ENSP00000471384.1:n.242-1340G>C
NM_000064.3:c.4547-90G>C NP_000055.2:n.4547-90G>C
NM_000064.4:c.4547-90G>C MANE Select NP_000055.2:n.4547-90G>C