Canonical Allele Identifier: CA993078297
Gene: C3 HGNC NCBI

Linked Data

dbSNP Id: rs1967986278
gnomAD v3: 19-6714277-C-T
gnomAD v4: 19-6714277-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6714277C>T , CM000681.2:g.6714277C>T GRCh38
NC_000019.9:g.6714288C>T , CM000681.1:g.6714288C>T GRCh37
NC_000019.8:g.6665288C>T NCBI36
NG_009557.1:g.11375G>A , LRG_27:g.11375G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.477-29G>A ENSP00000512083.1:n.477-29G>A
ENST00000245907.11:c.600-29G>A MANE Select ENSP00000245907.4:n.600-29G>A
ENST00000245907.10:c.600-29G>A ENSP00000245907.4:n.600-29G>A
ENST00000595577.1:n.75G>A
NM_000064.3:c.600-29G>A NP_000055.2:n.600-29G>A
NM_000064.4:c.600-29G>A MANE Select NP_000055.2:n.600-29G>A
Search 100 bp 5'
Search 100 bp 3'