Canonical Allele Identifier: CA14669344

Gene: C3

Linked Data

• dbSNP Id: rs11672613
• gnomAD v2: 19-6705246-T-C
• gnomAD v3: 19-6705235-T-C
• gnomAD v4: 19-6705235-T-C
• MyVariant Identifiers: chr19:g.6705246T>C (hg19) ; chr19:g.6705235T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6705235T>C , CM000681.2:g.6705235T>C	GRCh38
NC_000019.9:g.6705246T>C , CM000681.1:g.6705246T>C	GRCh37
NC_000019.8:g.6656246T>C	NCBI36
NG_009557.1:g.20417A>G , LRG_27:g.20417A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000695651.1:n.593+814A>G
ENST00000695652.1:c.2122+1841A>G	ENSP00000512083.1:n.2122+1841A>G
ENST00000695653.1:c.154+1841A>G	ENSP00000512084.1:n.154+1841A>G
ENST00000695654.1:c.1369+1841A>G	ENSP00000512085.1:n.1369+1841A>G
ENST00000695655.1:c.1186+1841A>G	ENSP00000512086.1:n.1186+1841A>G
ENST00000695692.1:n.1609+1841A>G
ENST00000245907.11:c.2245+1841A>G MANE Select	ENSP00000245907.4:n.2245+1841A>G
ENST00000245907.10:c.2245+1841A>G	ENSP00000245907.4:n.2245+1841A>G
NM_000064.3:c.2245+1841A>G	NP_000055.2:n.2245+1841A>G
NM_000064.4:c.2245+1841A>G MANE Select	NP_000055.2:n.2245+1841A>G