Canonical Allele Identifier: CA9128948
Gene: C3 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.6696586G>A
GRCh37 chr19:g.6696597G>A
gnomAD v2:
19:6696597 G / A
gnomAD v3:
19:6696586 G / A
gnomAD v4:
chr19-6696586-G-A
Joint Max Group AF 0.85503906 (EAS)
Genomes Max Group AF 0.821281 (EAS)
Exomes Max Group AF 0.85718392 (EAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6696586G>A , CM000681.2:g.6696586G>A GRCh38
NC_000019.9:g.6696597G>A , CM000681.1:g.6696597G>A GRCh37
NC_000019.8:g.6647597G>A NCBI36
NG_009557.1:g.29066C>T , LRG_27:g.29066C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.1211+7C>T
ENST00000695652.1:c.2740+7C>T ENSP00000512083.1:n.2740+7C>T
ENST00000695653.1:c.772+7C>T ENSP00000512084.1:n.772+7C>T
ENST00000695654.1:c.1987+7C>T ENSP00000512085.1:n.1987+7C>T
ENST00000695655.1:c.1804+7C>T ENSP00000512086.1:n.1804+7C>T
ENST00000695692.1:n.2227+7C>T
ENST00000245907.11:c.2863+7C>T MANE Select ENSP00000245907.4:n.2863+7C>T
ENST00000245907.10:c.2863+7C>T ENSP00000245907.4:n.2863+7C>T
NM_000064.3:c.2863+7C>T NP_000055.2:n.2863+7C>T
NM_000064.4:c.2863+7C>T MANE Select NP_000055.2:n.2863+7C>T
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