Canonical Allele Identifier: CA9129916
Gene: C3 HGNC NCBI

Linked Data

dbSNP Id: rs776363240
ExAC: 19:6719464 C / T
gnomAD v2: 19-6719464-C-T
gnomAD v3: 19-6719453-C-T
gnomAD v4: 19-6719453-C-T
MyVariant Identifiers: chr19:g.6719464C>T (hg19) chr19:g.6719453C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6719453C>T , CM000681.2:g.6719453C>T GRCh38
NC_000019.9:g.6719464C>T , CM000681.1:g.6719464C>T GRCh37
NC_000019.8:g.6670464C>T NCBI36
NG_009557.1:g.6199G>A , LRG_27:g.6199G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000594936.2:n.136-50G>A
ENST00000695652.1:c.-49-50G>A ENSP00000512083.1:n.-49-50G>A
ENST00000695693.1:c.75-50G>A ENSP00000512104.1:n.75-50G>A
ENST00000245907.11:c.75-50G>A MANE Select ENSP00000245907.4:n.75-50G>A
ENST00000245907.10:c.75-50G>A ENSP00000245907.4:n.75-50G>A
ENST00000594936.1:n.136-50G>A
ENST00000600744.1:c.-49-50G>A ENSP00000472044.1:n.-49-50G>A
NM_000064.3:c.75-50G>A NP_000055.2:n.75-50G>A
NM_000064.4:c.75-50G>A MANE Select NP_000055.2:n.75-50G>A
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