Canonical Allele Identifier: CA2582310752

Gene: C3

Linked Data

• dbSNP Id: rs2145412251
• gnomAD v3: 19-6697927-C-G
• gnomAD v4: 19-6697927-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6697927C>G , CM000681.2:g.6697927C>G	GRCh38
NC_000019.9:g.6697938C>G , CM000681.1:g.6697938C>G	GRCh37
NC_000019.8:g.6648938C>G	NCBI36
NG_009557.1:g.27725G>C , LRG_27:g.27725G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.789-133G>C
ENST00000695652.1:c.2318-133G>C	ENSP00000512083.1:n.2318-133G>C
ENST00000695653.1:c.350-133G>C	ENSP00000512084.1:n.350-133G>C
ENST00000695654.1:c.1565-133G>C	ENSP00000512085.1:n.1565-133G>C
ENST00000695655.1:c.1382-133G>C	ENSP00000512086.1:n.1382-133G>C
ENST00000695692.1:n.1805-133G>C
ENST00000245907.11:c.2441-133G>C MANE Select	ENSP00000245907.4:n.2441-133G>C
ENST00000245907.10:c.2441-133G>C	ENSP00000245907.4:n.2441-133G>C
ENST00000602053.1:n.489-133G>C
NM_000064.3:c.2441-133G>C	NP_000055.2:n.2441-133G>C
NM_000064.4:c.2441-133G>C MANE Select	NP_000055.2:n.2441-133G>C