Canonical Allele Identifier: CA304799490
Gene: C3 HGNC NCBI

Linked Data

dbSNP Id: rs752938129
gnomAD v2: 19-6714643-C-T
gnomAD v3: 19-6714632-C-T
gnomAD v4: 19-6714632-C-T
MyVariant Identifiers: chr19:g.6714643C>T (hg19) chr19:g.6714632C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6714632C>T , CM000681.2:g.6714632C>T GRCh38
NC_000019.9:g.6714643C>T , CM000681.1:g.6714643C>T GRCh37
NC_000019.8:g.6665643C>T NCBI36
NG_009557.1:g.11020G>A , LRG_27:g.11020G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.382-186G>A ENSP00000512083.1:n.382-186G>A
ENST00000245907.11:c.505-186G>A MANE Select ENSP00000245907.4:n.505-186G>A
ENST00000245907.10:c.505-186G>A ENSP00000245907.4:n.505-186G>A
NM_000064.3:c.505-186G>A NP_000055.2:n.505-186G>A
NM_000064.4:c.505-186G>A MANE Select NP_000055.2:n.505-186G>A
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