Canonical Allele Identifier: CA2320551660

Gene: C3

Linked Data

• dbSNP Id: rs1917883629
• gnomAD v4: 19-6682246-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6682246G>A , CM000681.2:g.6682246G>A	GRCh38
NC_000019.9:g.6682257G>A , CM000681.1:g.6682257G>A	GRCh37
NC_000019.8:g.6633257G>A	NCBI36
NG_009557.1:g.43406C>T , LRG_27:g.43406C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2521-17C>T
ENST00000695653.1:c.2082-17C>T	ENSP00000512084.1:n.2082-17C>T
ENST00000695654.1:c.3198-17C>T	ENSP00000512085.1:n.3198-17C>T
ENST00000695689.1:c.144-17C>T	ENSP00000512101.1:n.144-17C>T
ENST00000695690.1:n.364-17C>T
ENST00000695691.1:n.364-17C>T
ENST00000245907.11:c.4173-17C>T MANE Select	ENSP00000245907.4:n.4173-17C>T
ENST00000245907.10:c.4173-17C>T	ENSP00000245907.4:n.4173-17C>T
ENST00000596548.1:c.294-17C>T	ENSP00000469744.1:n.294-17C>T
ENST00000599899.5:n.1115C>T
ENST00000601008.1:c.242-4288C>T	ENSP00000471384.1:n.242-4288C>T
NM_000064.3:c.4173-17C>T	NP_000055.2:n.4173-17C>T
NM_000064.4:c.4173-17C>T MANE Select	NP_000055.2:n.4173-17C>T