Canonical Allele Identifier: CA304799460
Gene: C3 HGNC NCBI

Linked Data

dbSNP Id: rs551788691
gnomAD v2: 19-6714629-C-T
gnomAD v3: 19-6714618-C-T
gnomAD v4: 19-6714618-C-T
MyVariant Identifiers: chr19:g.6714629C>T (hg19) chr19:g.6714618C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6714618C>T , CM000681.2:g.6714618C>T GRCh38
NC_000019.9:g.6714629C>T , CM000681.1:g.6714629C>T GRCh37
NC_000019.8:g.6665629C>T NCBI36
NG_009557.1:g.11034G>A , LRG_27:g.11034G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.382-172G>A ENSP00000512083.1:n.382-172G>A
ENST00000245907.11:c.505-172G>A MANE Select ENSP00000245907.4:n.505-172G>A
ENST00000245907.10:c.505-172G>A ENSP00000245907.4:n.505-172G>A
NM_000064.3:c.505-172G>A NP_000055.2:n.505-172G>A
NM_000064.4:c.505-172G>A MANE Select NP_000055.2:n.505-172G>A
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