Canonical Allele Identifier: CA9129610
Gene: C3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1463640
ClinVar RCV Id: RCV001956679 RCV002492153
dbSNP Id: rs375264020
ExAC: 19:6713227 C / T
gnomAD v2: 19-6713227-C-T
gnomAD v3: 19-6713216-C-T
gnomAD v4: 19-6713216-C-T
COSMIC: COSM3773213
MyVariant Identifiers: chr19:g.6713227C>T (hg19) chr19:g.6713216C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6713216C>T , CM000681.2:g.6713216C>T GRCh38
NC_000019.9:g.6713227C>T , CM000681.1:g.6713227C>T GRCh37
NC_000019.8:g.6664227C>T NCBI36
NG_009557.1:g.12436G>A , LRG_27:g.12436G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.853G>A ENSP00000512083.1:p.Val285Met
ENST00000695654.1:c.100G>A ENSP00000512085.1:p.Val34Met
ENST00000695692.1:n.300G>A
ENST00000245907.11:c.976G>A MANE Select ENSP00000245907.4:p.Val326Met
ENST00000245907.10:c.976G>A ENSP00000245907.4:p.Val326Met
ENST00000594270.5:n.100G>A
ENST00000595577.1:n.480G>A
ENST00000597442.5:n.226G>A
NM_000064.3:c.976G>A NP_000055.2:p.Val326Met
NM_000064.4:c.976G>A MANE Select NP_000055.2:p.Val326Met
Search 100 bp 5'
Search 100 bp 3'