Canonical Allele Identifier: CA9129640

Gene: C3

Linked Data

• dbSNP Id: rs759921387
• ExAC: 19:6713388 A / G
• gnomAD v2: 19-6713388-A-G
• gnomAD v3: 19-6713377-A-G
• gnomAD v4: 19-6713377-A-G
• MyVariant Identifiers: chr19:g.6713388A>G (hg19) ; chr19:g.6713377A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6713377A>G , CM000681.2:g.6713377A>G	GRCh38
NC_000019.9:g.6713388A>G , CM000681.1:g.6713388A>G	GRCh37
NC_000019.8:g.6664388A>G	NCBI36
NG_009557.1:g.12275T>C , LRG_27:g.12275T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695652.1:c.753+30T>C	ENSP00000512083.1:n.753+30T>C
ENST00000695692.1:n.200+30T>C
ENST00000245907.11:c.876+30T>C MANE Select	ENSP00000245907.4:n.876+30T>C
ENST00000245907.10:c.876+30T>C	ENSP00000245907.4:n.876+30T>C
ENST00000595577.1:n.380+30T>C
ENST00000597442.5:n.126+30T>C
NM_000064.3:c.876+30T>C	NP_000055.2:n.876+30T>C
NM_000064.4:c.876+30T>C MANE Select	NP_000055.2:n.876+30T>C