Canonical Allele Identifier: CA631662341
Gene: C3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1468945
ClinVar RCV Id: RCV001972899
dbSNP Id: rs1293161211
gnomAD v2: 19-6714096-G-T
gnomAD v4: 19-6714085-G-T
MyVariant Identifiers: chr19:g.6714096G>T (hg19) chr19:g.6714085G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6714085G>T , CM000681.2:g.6714085G>T GRCh38
NC_000019.9:g.6714096G>T , CM000681.1:g.6714096G>T GRCh37
NC_000019.8:g.6665096G>T NCBI36
NG_009557.1:g.11567C>A , LRG_27:g.11567C>A

Transcript Alleles

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