Canonical Allele Identifier: CA993064400

Gene: C3

Linked Data

• dbSNP Id: rs1917871289
• gnomAD v3: 19-6681897-G-A
• gnomAD v4: 19-6681897-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6681897G>A , CM000681.2:g.6681897G>A	GRCh38
NC_000019.9:g.6681908G>A , CM000681.1:g.6681908G>A	GRCh37
NC_000019.8:g.6632908G>A	NCBI36
NG_009557.1:g.43755C>T , LRG_27:g.43755C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2698+44C>T
ENST00000695653.1:c.2259+44C>T	ENSP00000512084.1:n.2259+44C>T
ENST00000695654.1:c.3375+44C>T	ENSP00000512085.1:n.3375+44C>T
ENST00000695689.1:c.321+44C>T	ENSP00000512101.1:n.321+44C>T
ENST00000695690.1:n.585C>T
ENST00000695691.1:n.585C>T
ENST00000245907.11:c.4350+44C>T MANE Select	ENSP00000245907.4:n.4350+44C>T
ENST00000245907.10:c.4350+44C>T	ENSP00000245907.4:n.4350+44C>T
ENST00000596548.1:c.471+44C>T	ENSP00000469744.1:n.471+44C>T
ENST00000599899.5:n.1309+44C>T
ENST00000601008.1:c.242-3939C>T	ENSP00000471384.1:n.242-3939C>T
NM_000064.3:c.4350+44C>T	NP_000055.2:n.4350+44C>T
NM_000064.4:c.4350+44C>T MANE Select	NP_000055.2:n.4350+44C>T