Canonical Allele Identifier: CA14633511
Gene: C3 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.6685972G>C
GRCh37 chr19:g.6685983G>C
gnomAD v2:
19:6685983 G / C
gnomAD v3:
19:6685972 G / C
gnomAD v4:
chr19-6685972-G-C
Joint Max Group AF 0.7311149 (EAS)
Genomes Max Group AF 0.68802957 (EAS)
Exomes Max Group AF 0.73512108 (EAS)
ClinVar RCV:
RCV001676213
ClinVar Variation:
1266390
dbSNP:
2241392
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6685972G>C , CM000681.2:g.6685972G>C GRCh38
NC_000019.9:g.6685983G>C , CM000681.1:g.6685983G>C GRCh37
NC_000019.8:g.6636983G>C NCBI36
NG_009557.1:g.39680C>G , LRG_27:g.39680C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2158+152C>G
ENST00000695653.1:c.1719+152C>G ENSP00000512084.1:n.1719+152C>G
ENST00000695654.1:c.2835+152C>G ENSP00000512085.1:n.2835+152C>G
ENST00000245907.11:c.3810+152C>G MANE Select ENSP00000245907.4:n.3810+152C>G
ENST00000245907.10:c.3810+152C>G ENSP00000245907.4:n.3810+152C>G
ENST00000596238.1:n.253+152C>G
ENST00000601008.1:c.241+774C>G ENSP00000471384.1:n.241+774C>G
NM_000064.3:c.3810+152C>G NP_000055.2:n.3810+152C>G
NM_000064.4:c.3810+152C>G MANE Select NP_000055.2:n.3810+152C>G
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