Canonical Allele Identifier: CA9129719
Gene: C3 HGNC NCBI

Linked Data

dbSNP Id: rs749649079
ExAC: 19:6714124 C / T
gnomAD v2: 19-6714124-C-T
gnomAD v4: 19-6714113-C-T
MyVariant Identifiers: chr19:g.6714124C>T (hg19) chr19:g.6714113C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6714113C>T , CM000681.2:g.6714113C>T GRCh38
NC_000019.9:g.6714124C>T , CM000681.1:g.6714124C>T GRCh37
NC_000019.8:g.6665124C>T NCBI36
NG_009557.1:g.11539G>A , LRG_27:g.11539G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000695652.1:c.560-31G>A ENSP00000512083.1:n.560-31G>A
ENST00000245907.11:c.683-31G>A MANE Select ENSP00000245907.4:n.683-31G>A
ENST00000245907.10:c.683-31G>A ENSP00000245907.4:n.683-31G>A
ENST00000595577.1:n.187-31G>A
NM_000064.3:c.683-31G>A NP_000055.2:n.683-31G>A
NM_000064.4:c.683-31G>A MANE Select NP_000055.2:n.683-31G>A
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