Canonical Allele Identifier: CA2548406252

Gene: C3

Linked Data

• gnomAD v4: 19-6714138-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6714138G>A , CM000681.2:g.6714138G>A	GRCh38
NC_000019.9:g.6714149G>A , CM000681.1:g.6714149G>A	GRCh37
NC_000019.8:g.6665149G>A	NCBI36
NG_009557.1:g.11514C>T , LRG_27:g.11514C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695652.1:c.559+28C>T	ENSP00000512083.1:n.559+28C>T
ENST00000245907.11:c.682+28C>T MANE Select	ENSP00000245907.4:n.682+28C>T
ENST00000245907.10:c.682+28C>T	ENSP00000245907.4:n.682+28C>T
ENST00000595577.1:n.186+28C>T
NM_000064.3:c.682+28C>T	NP_000055.2:n.682+28C>T
NM_000064.4:c.682+28C>T MANE Select	NP_000055.2:n.682+28C>T