Canonical Allele Identifier: CA9129436
Gene: C3 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.6710937G>A
GRCh37 chr19:g.6710948G>A
gnomAD v2:
19:6710948 G / A
gnomAD v3:
19:6710937 G / A
gnomAD v4:
chr19-6710937-G-A
Joint Max Group AF 0.40774275 (EAS)
Genomes Max Group AF 0.41383056 (EAS)
Exomes Max Group AF 0.40536056 (EAS)
ClinVar RCV:
RCV001614904
ClinVar Variation:
1230447
dbSNP:
10411506
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6710937G>A , CM000681.2:g.6710937G>A GRCh38
NC_000019.9:g.6710948G>A , CM000681.1:g.6710948G>A GRCh37
NC_000019.8:g.6661948G>A NCBI36
NG_009557.1:g.14715C>T , LRG_27:g.14715C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.1356+50C>T ENSP00000512083.1:n.1356+50C>T
ENST00000695654.1:c.603+50C>T ENSP00000512085.1:n.603+50C>T
ENST00000695655.1:c.360+50C>T ENSP00000512086.1:n.360+50C>T
ENST00000695692.1:n.843+50C>T
ENST00000245907.11:c.1479+50C>T MANE Select ENSP00000245907.4:n.1479+50C>T
ENST00000245907.10:c.1479+50C>T ENSP00000245907.4:n.1479+50C>T
ENST00000600763.1:n.21C>T
NM_000064.3:c.1479+50C>T NP_000055.2:n.1479+50C>T
NM_000064.4:c.1479+50C>T MANE Select NP_000055.2:n.1479+50C>T
Search 100 bp 5'
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