Canonical Allele Identifier: CA505125151

Gene: C3

Linked Data

• dbSNP Id: rs1216289586
• gnomAD v2: 19-6718301-G-C
• gnomAD v4: 19-6718290-G-C
• MyVariant Identifiers: chr19:g.6718301G>C (hg19) ; chr19:g.6718290G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6718290G>C , CM000681.2:g.6718290G>C	GRCh38
NC_000019.9:g.6718301G>C , CM000681.1:g.6718301G>C	GRCh37
NC_000019.8:g.6669301G>C	NCBI36
NG_009557.1:g.7362C>G , LRG_27:g.7362C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000594936.2:n.451C>G
ENST00000695652.1:c.267C>G	ENSP00000512083.1:p.Leu89=
ENST00000695693.1:c.390C>G	ENSP00000512104.1:p.Leu130=
ENST00000245907.11:c.390C>G MANE Select	ENSP00000245907.4:p.Leu130=
ENST00000245907.10:c.390C>G	ENSP00000245907.4:p.Leu130=
ENST00000594936.1:n.451C>G
ENST00000600744.1:c.267C>G	ENSP00000472044.1:p.Leu89=
NM_000064.3:c.390C>G	NP_000055.2:p.Leu130=
NM_000064.4:c.390C>G MANE Select	NP_000055.2:p.Leu130=