Canonical Allele Identifier: CA304799466
Gene: C3 HGNC NCBI

Linked Data

dbSNP Id: rs180737676
gnomAD v2: 19-6714638-T-C
gnomAD v3: 19-6714627-T-C
gnomAD v4: 19-6714627-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6714627T>C , CM000681.2:g.6714627T>C GRCh38
NC_000019.9:g.6714638T>C , CM000681.1:g.6714638T>C GRCh37
NC_000019.8:g.6665638T>C NCBI36
NG_009557.1:g.11025A>G , LRG_27:g.11025A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.382-181A>G ENSP00000512083.1:n.382-181A>G
ENST00000245907.11:c.505-181A>G MANE Select ENSP00000245907.4:n.505-181A>G
ENST00000245907.10:c.505-181A>G ENSP00000245907.4:n.505-181A>G
NM_000064.3:c.505-181A>G NP_000055.2:n.505-181A>G
NM_000064.4:c.505-181A>G MANE Select NP_000055.2:n.505-181A>G