Canonical Allele Identifier: CA304797297

Gene: C3

Linked Data

• dbSNP Id: rs537789141
• gnomAD v2: 19-6712854-A-C
• gnomAD v3: 19-6712843-A-C
• gnomAD v4: 19-6712843-A-C
• MyVariant Identifiers: chr19:g.6712854A>C (hg19) ; chr19:g.6712843A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6712843A>C , CM000681.2:g.6712843A>C	GRCh38
NC_000019.9:g.6712854A>C , CM000681.1:g.6712854A>C	GRCh37
NC_000019.8:g.6663854A>C	NCBI36
NG_009557.1:g.12809T>G , LRG_27:g.12809T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695652.1:c.881-220T>G	ENSP00000512083.1:n.881-220T>G
ENST00000695654.1:c.128-220T>G	ENSP00000512085.1:n.128-220T>G
ENST00000695692.1:n.328-180T>G
ENST00000245907.11:c.1004-220T>G MANE Select	ENSP00000245907.4:n.1004-220T>G
ENST00000245907.10:c.1004-220T>G	ENSP00000245907.4:n.1004-220T>G
ENST00000594270.5:n.128-241T>G
ENST00000595577.1:n.508-220T>G
ENST00000597442.5:n.254-220T>G
NM_000064.3:c.1004-220T>G	NP_000055.2:n.1004-220T>G
NM_000064.4:c.1004-220T>G MANE Select	NP_000055.2:n.1004-220T>G