Canonical Allele Identifier: CA403642473
Gene: C3 HGNC NCBI

Linked Data

dbSNP Id: rs1967963190
gnomAD v3: 19-6713420-A-C
gnomAD v4: 19-6713420-A-C
MyVariant Identifiers: chr19:g.6713431A>C (hg19) chr19:g.6713420A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6713420A>C , CM000681.2:g.6713420A>C GRCh38
NC_000019.9:g.6713431A>C , CM000681.1:g.6713431A>C GRCh37
NC_000019.8:g.6664431A>C NCBI36
NG_009557.1:g.12232T>G , LRG_27:g.12232T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.740T>G ENSP00000512083.1:p.Leu247Arg
ENST00000695692.1:n.187T>G
ENST00000245907.11:c.863T>G MANE Select ENSP00000245907.4:p.Leu288Arg
ENST00000245907.10:c.863T>G ENSP00000245907.4:p.Leu288Arg
ENST00000595577.1:n.367T>G
ENST00000597442.5:n.113T>G
NM_000064.3:c.863T>G NP_000055.2:p.Leu288Arg
NM_000064.4:c.863T>G MANE Select NP_000055.2:p.Leu288Arg
Search 100 bp 5'
Search 100 bp 3'