Canonical Allele Identifier: CA403633145

Gene: C3

Linked Data

• gnomAD v4: 19-6697487-T-C
• MyVariant Identifiers: chr19:g.6697498T>C (hg19) ; chr19:g.6697487T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6697487T>C , CM000681.2:g.6697487T>C	GRCh38
NC_000019.9:g.6697498T>C , CM000681.1:g.6697498T>C	GRCh37
NC_000019.8:g.6648498T>C	NCBI36
NG_009557.1:g.28165A>G , LRG_27:g.28165A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.1001A>G
ENST00000695652.1:c.2530A>G	ENSP00000512083.1:p.Thr844Ala
ENST00000695653.1:c.562A>G	ENSP00000512084.1:p.Thr188Ala
ENST00000695654.1:c.1777A>G	ENSP00000512085.1:p.Thr593Ala
ENST00000695655.1:c.1594A>G	ENSP00000512086.1:n.1594A>G
ENST00000695692.1:n.2017A>G
ENST00000245907.11:c.2653A>G MANE Select	ENSP00000245907.4:p.Thr885Ala
ENST00000245907.10:c.2653A>G	ENSP00000245907.4:p.Thr885Ala
ENST00000594005.1:n.229A>G
NM_000064.3:c.2653A>G	NP_000055.2:p.Thr885Ala
NM_000064.4:c.2653A>G MANE Select	NP_000055.2:p.Thr885Ala