Canonical Allele Identifier: CA505193138
Gene: C3 HGNC NCBI

Linked Data

dbSNP Id: rs1967960754
gnomAD v4: 19-6713307-A-G
MyVariant Identifiers: chr19:g.6713318A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6713307A>G , CM000681.2:g.6713307A>G GRCh38
NC_000019.9:g.6713318A>G , CM000681.1:g.6713318A>G GRCh37
NC_000019.8:g.6664318A>G NCBI36
NG_009557.1:g.12345T>C , LRG_27:g.12345T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.762T>C ENSP00000512083.1:p.Asp254=
ENST00000695654.1:c.9T>C ENSP00000512085.1:p.Asp3=
ENST00000695692.1:n.209T>C
ENST00000245907.11:c.885T>C MANE Select ENSP00000245907.4:p.Asp295=
ENST00000245907.10:c.885T>C ENSP00000245907.4:p.Asp295=
ENST00000594270.5:n.9T>C
ENST00000595577.1:n.389T>C
ENST00000597442.5:n.135T>C
NM_000064.3:c.885T>C NP_000055.2:p.Asp295=
NM_000064.4:c.885T>C MANE Select NP_000055.2:p.Asp295=