Canonical Allele Identifier: CA9129324
Gene: C3 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.6709693C>T
GRCh37 chr19:g.6709704C>T
gnomAD v2:
19:6709704 C / T
gnomAD v3:
19:6709693 C / T
gnomAD v4:
chr19-6709693-C-T
Joint Max Group AF 0.41447313 (EAS)
Genomes Max Group AF 0.42037474 (EAS)
Exomes Max Group AF 0.41212087 (EAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6709693C>T , CM000681.2:g.6709693C>T GRCh38
NC_000019.9:g.6709704C>T , CM000681.1:g.6709704C>T GRCh37
NC_000019.8:g.6660704C>T NCBI36
NG_009557.1:g.15959G>A , LRG_27:g.15959G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.1713G>A ENSP00000512083.1:p.Thr571=
ENST00000695654.1:c.960G>A ENSP00000512085.1:p.Thr320=
ENST00000695655.1:c.777G>A ENSP00000512086.1:n.777G>A
ENST00000695692.1:n.1200G>A
ENST00000245907.11:c.1836G>A MANE Select ENSP00000245907.4:p.Thr612=
ENST00000245907.10:c.1836G>A ENSP00000245907.4:p.Thr612=
NM_000064.3:c.1836G>A NP_000055.2:p.Thr612=
NM_000064.4:c.1836G>A MANE Select NP_000055.2:p.Thr612=
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