Canonical Allele Identifier: CA304775646

Gene: C3

Linked Data

• dbSNP Id: rs922752667
• gnomAD v3: 19-6685994-T-C
• gnomAD v4: 19-6685994-T-C
• MyVariant Identifiers: chr19:g.6686005T>C (hg19) ; chr19:g.6685994T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6685994T>C , CM000681.2:g.6685994T>C	GRCh38
NC_000019.9:g.6686005T>C , CM000681.1:g.6686005T>C	GRCh37
NC_000019.8:g.6637005T>C	NCBI36
NG_009557.1:g.39658A>G , LRG_27:g.39658A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2158+130A>G
ENST00000695653.1:c.1719+130A>G	ENSP00000512084.1:n.1719+130A>G
ENST00000695654.1:c.2835+130A>G	ENSP00000512085.1:n.2835+130A>G
ENST00000245907.11:c.3810+130A>G MANE Select	ENSP00000245907.4:n.3810+130A>G
ENST00000245907.10:c.3810+130A>G	ENSP00000245907.4:n.3810+130A>G
ENST00000596238.1:n.253+130A>G
ENST00000601008.1:c.241+752A>G	ENSP00000471384.1:n.241+752A>G
NM_000064.3:c.3810+130A>G	NP_000055.2:n.3810+130A>G
NM_000064.4:c.3810+130A>G MANE Select	NP_000055.2:n.3810+130A>G