Canonical Allele Identifier: CA505124827
Gene: C3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1643536
ClinVar RCV Id: RCV002138308
dbSNP Id: rs1188223652
gnomAD v2: 19-6709833-C-T
gnomAD v4: 19-6709822-C-T
MyVariant Identifiers: chr19:g.6709833C>T (hg19) chr19:g.6709822C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6709822C>T , CM000681.2:g.6709822C>T GRCh38
NC_000019.9:g.6709833C>T , CM000681.1:g.6709833C>T GRCh37
NC_000019.8:g.6660833C>T NCBI36
NG_009557.1:g.15830G>A , LRG_27:g.15830G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.1584G>A ENSP00000512083.1:p.Gln528=
ENST00000695654.1:c.831G>A ENSP00000512085.1:p.Gln277=
ENST00000695655.1:c.648G>A ENSP00000512086.1:n.648G>A
ENST00000695692.1:n.1071G>A
ENST00000245907.11:c.1707G>A MANE Select ENSP00000245907.4:p.Gln569=
ENST00000245907.10:c.1707G>A ENSP00000245907.4:p.Gln569=
ENST00000600763.1:n.340G>A
NM_000064.3:c.1707G>A NP_000055.2:p.Gln569=
NM_000064.4:c.1707G>A MANE Select NP_000055.2:p.Gln569=
Search 100 bp 5'
Search 100 bp 3'