Canonical Allele Identifier: CA304788153

Gene: C3

Linked Data

• dbSNP Id: rs1020663584
• gnomAD v3: 19-6701478-C-G
• gnomAD v4: 19-6701478-C-G
• MyVariant Identifiers: chr19:g.6701489C>G (hg19) ; chr19:g.6701478C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6701478C>G , CM000681.2:g.6701478C>G	GRCh38
NC_000019.9:g.6701489C>G , CM000681.1:g.6701489C>G	GRCh37
NC_000019.8:g.6652489C>G	NCBI36
NG_009557.1:g.24174G>C , LRG_27:g.24174G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.788+649G>C
ENST00000695652.1:c.2317+649G>C	ENSP00000512083.1:n.2317+649G>C
ENST00000695653.1:c.349+649G>C	ENSP00000512084.1:n.349+649G>C
ENST00000695654.1:c.1564+649G>C	ENSP00000512085.1:n.1564+649G>C
ENST00000695655.1:c.1381+649G>C	ENSP00000512086.1:n.1381+649G>C
ENST00000695692.1:n.1804+649G>C
ENST00000245907.11:c.2440+649G>C MANE Select	ENSP00000245907.4:n.2440+649G>C
ENST00000245907.10:c.2440+649G>C	ENSP00000245907.4:n.2440+649G>C
ENST00000602053.1:n.488+649G>C
NM_000064.3:c.2440+649G>C	NP_000055.2:n.2440+649G>C
NM_000064.4:c.2440+649G>C MANE Select	NP_000055.2:n.2440+649G>C