Canonical Allele Identifier: CA304773158

Gene: C3

Linked Data

• dbSNP Id: rs1005743166
• gnomAD v2: 19-6682372-T-C
• gnomAD v3: 19-6682361-T-C
• gnomAD v4: 19-6682361-T-C
• MyVariant Identifiers: chr19:g.6682372T>C (hg19) ; chr19:g.6682361T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6682361T>C , CM000681.2:g.6682361T>C	GRCh38
NC_000019.9:g.6682372T>C , CM000681.1:g.6682372T>C	GRCh37
NC_000019.8:g.6633372T>C	NCBI36
NG_009557.1:g.43291A>G , LRG_27:g.43291A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2521-132A>G
ENST00000695653.1:c.2082-132A>G	ENSP00000512084.1:n.2082-132A>G
ENST00000695654.1:c.3198-132A>G	ENSP00000512085.1:n.3198-132A>G
ENST00000695689.1:c.144-132A>G	ENSP00000512101.1:n.144-132A>G
ENST00000695690.1:n.364-132A>G
ENST00000695691.1:n.364-132A>G
ENST00000245907.11:c.4173-132A>G MANE Select	ENSP00000245907.4:n.4173-132A>G
ENST00000245907.10:c.4173-132A>G	ENSP00000245907.4:n.4173-132A>G
ENST00000596548.1:c.294-132A>G	ENSP00000469744.1:n.294-132A>G
ENST00000599899.5:n.1000A>G
ENST00000601008.1:c.241+4385A>G	ENSP00000471384.1:n.241+4385A>G
NM_000064.3:c.4173-132A>G	NP_000055.2:n.4173-132A>G
NM_000064.4:c.4173-132A>G MANE Select	NP_000055.2:n.4173-132A>G