Canonical Allele Identifier: CA403633013

Gene: C3

Linked Data

• dbSNP Id: rs745503980
• gnomAD v2: 19-6697473-G-C
• gnomAD v3: 19-6697462-G-C
• gnomAD v4: 19-6697462-G-C
• MyVariant Identifiers: chr19:g.6697473G>C (hg19) ; chr19:g.6697462G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6697462G>C , CM000681.2:g.6697462G>C	GRCh38
NC_000019.9:g.6697473G>C , CM000681.1:g.6697473G>C	GRCh37
NC_000019.8:g.6648473G>C	NCBI36
NG_009557.1:g.28190C>G , LRG_27:g.28190C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.1026C>G
ENST00000695652.1:c.2555C>G	ENSP00000512083.1:p.Ser852Trp
ENST00000695653.1:c.587C>G	ENSP00000512084.1:p.Ser196Trp
ENST00000695654.1:c.1802C>G	ENSP00000512085.1:p.Ser601Trp
ENST00000695655.1:c.1619C>G	ENSP00000512086.1:n.1619C>G
ENST00000695692.1:n.2042C>G
ENST00000245907.11:c.2678C>G MANE Select	ENSP00000245907.4:p.Ser893Trp
ENST00000245907.10:c.2678C>G	ENSP00000245907.4:p.Ser893Trp
ENST00000594005.1:n.254C>G
NM_000064.3:c.2678C>G	NP_000055.2:p.Ser893Trp
NM_000064.4:c.2678C>G MANE Select	NP_000055.2:p.Ser893Trp