Canonical Allele Identifier: CA631722125
Gene: C3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1662101
ClinVar RCV Id: RCV002193413
dbSNP Id: rs1256371893
gnomAD v2: 19-6713408-T-A
gnomAD v4: 19-6713397-T-A
MyVariant Identifiers: chr19:g.6713408T>A (hg19) chr19:g.6713397T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6713397T>A , CM000681.2:g.6713397T>A GRCh38
NC_000019.9:g.6713408T>A , CM000681.1:g.6713408T>A GRCh37
NC_000019.8:g.6664408T>A NCBI36
NG_009557.1:g.12255A>T , LRG_27:g.12255A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.753+10A>T ENSP00000512083.1:n.753+10A>T
ENST00000695692.1:n.200+10A>T
ENST00000245907.11:c.876+10A>T MANE Select ENSP00000245907.4:n.876+10A>T
ENST00000245907.10:c.876+10A>T ENSP00000245907.4:n.876+10A>T
ENST00000595577.1:n.380+10A>T
ENST00000597442.5:n.126+10A>T
NM_000064.3:c.876+10A>T NP_000055.2:n.876+10A>T
NM_000064.4:c.876+10A>T MANE Select NP_000055.2:n.876+10A>T
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