Canonical Allele Identifier: CA403639148

Gene: C3

Linked Data

• gnomAD v4: 19-6709688-C-G
• MyVariant Identifiers: chr19:g.6709699C>G (hg19) ; chr19:g.6709688C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6709688C>G , CM000681.2:g.6709688C>G	GRCh38
NC_000019.9:g.6709699C>G , CM000681.1:g.6709699C>G	GRCh37
NC_000019.8:g.6660699C>G	NCBI36
NG_009557.1:g.15964G>C , LRG_27:g.15964G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000695652.1:c.1718G>C	ENSP00000512083.1:p.Ser573Thr
ENST00000695654.1:c.965G>C	ENSP00000512085.1:p.Ser322Thr
ENST00000695655.1:c.782G>C	ENSP00000512086.1:n.782G>C
ENST00000695692.1:n.1205G>C
ENST00000245907.11:c.1841G>C MANE Select	ENSP00000245907.4:p.Ser614Thr
ENST00000245907.10:c.1841G>C	ENSP00000245907.4:p.Ser614Thr
NM_000064.3:c.1841G>C	NP_000055.2:p.Ser614Thr
NM_000064.4:c.1841G>C MANE Select	NP_000055.2:p.Ser614Thr