Canonical Allele Identifier: CA14633509
Gene: C3 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.6685293G>C
GRCh37 chr19:g.6685304G>C
gnomAD v2:
19:6685304 G / C
gnomAD v3:
19:6685293 G / C
gnomAD v4:
chr19-6685293-G-C
Joint Max Group AF 0.65682106 (EAS)
Genomes Max Group AF 0.61274795 (EAS)
Exomes Max Group AF 0.66156427 (EAS)
ClinVar RCV:
RCV001671417
ClinVar Variation:
1261016
dbSNP:
2241393
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6685293G>C , CM000681.2:g.6685293G>C GRCh38
NC_000019.9:g.6685304G>C , CM000681.1:g.6685304G>C GRCh37
NC_000019.8:g.6636304G>C NCBI36
NG_009557.1:g.40359C>G , LRG_27:g.40359C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2159-147C>G
ENST00000695653.1:c.1720-147C>G ENSP00000512084.1:n.1720-147C>G
ENST00000695654.1:c.2836-147C>G ENSP00000512085.1:n.2836-147C>G
ENST00000245907.11:c.3811-147C>G MANE Select ENSP00000245907.4:n.3811-147C>G
ENST00000245907.10:c.3811-147C>G ENSP00000245907.4:n.3811-147C>G
ENST00000596238.1:n.254-147C>G
ENST00000601008.1:c.241+1453C>G ENSP00000471384.1:n.241+1453C>G
NM_000064.3:c.3811-147C>G NP_000055.2:n.3811-147C>G
NM_000064.4:c.3811-147C>G MANE Select NP_000055.2:n.3811-147C>G
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