Canonical Allele Identifier: CA403642103

Gene: C3

Linked Data

• gnomAD v4: 19-6713218-T-C
• MyVariant Identifiers: chr19:g.6713229T>C (hg19) ; chr19:g.6713218T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6713218T>C , CM000681.2:g.6713218T>C	GRCh38
NC_000019.9:g.6713229T>C , CM000681.1:g.6713229T>C	GRCh37
NC_000019.8:g.6664229T>C	NCBI36
NG_009557.1:g.12434A>G , LRG_27:g.12434A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695652.1:c.851A>G	ENSP00000512083.1:p.Tyr284Cys
ENST00000695654.1:c.98A>G	ENSP00000512085.1:p.Tyr33Cys
ENST00000695692.1:n.298A>G
ENST00000245907.11:c.974A>G MANE Select	ENSP00000245907.4:p.Tyr325Cys
ENST00000245907.10:c.974A>G	ENSP00000245907.4:p.Tyr325Cys
ENST00000594270.5:n.98A>G
ENST00000595577.1:n.478A>G
ENST00000597442.5:n.224A>G
NM_000064.3:c.974A>G	NP_000055.2:p.Tyr325Cys
NM_000064.4:c.974A>G MANE Select	NP_000055.2:p.Tyr325Cys