Canonical Allele Identifier: CA993065996

Gene: C3

Linked Data

• dbSNP Id: rs1967668479
• gnomAD v3: 19-6701353-C-T
• gnomAD v4: 19-6701353-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6701353C>T , CM000681.2:g.6701353C>T	GRCh38
NC_000019.9:g.6701364C>T , CM000681.1:g.6701364C>T	GRCh37
NC_000019.8:g.6652364C>T	NCBI36
NG_009557.1:g.24299G>A , LRG_27:g.24299G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000695651.1:n.788+774G>A
ENST00000695652.1:c.2317+774G>A	ENSP00000512083.1:n.2317+774G>A
ENST00000695653.1:c.349+774G>A	ENSP00000512084.1:n.349+774G>A
ENST00000695654.1:c.1564+774G>A	ENSP00000512085.1:n.1564+774G>A
ENST00000695655.1:c.1381+774G>A	ENSP00000512086.1:n.1381+774G>A
ENST00000695692.1:n.1804+774G>A
ENST00000245907.11:c.2440+774G>A MANE Select	ENSP00000245907.4:n.2440+774G>A
ENST00000245907.10:c.2440+774G>A	ENSP00000245907.4:n.2440+774G>A
ENST00000602053.1:n.488+774G>A
NM_000064.3:c.2440+774G>A	NP_000055.2:n.2440+774G>A
NM_000064.4:c.2440+774G>A MANE Select	NP_000055.2:n.2440+774G>A