Canonical Allele Identifier: CA993077778

Gene: C3

Linked Data

• dbSNP Id: rs1967967216
• gnomAD v3: 19-6713636-T-TCCAGCCCCTCACCTGGCCCCACCC
• gnomAD v4: 19-6713636-T-TCCAGCCCCTCACCTGGCCCCACCC

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6713645_6713668dup , CM000681.2:g.6713645_6713668dup	GRCh38
NC_000019.9:g.6713656_6713679dup , CM000681.1:g.6713656_6713679dup	GRCh37
NC_000019.8:g.6664656_6664679dup	NCBI36
NG_009557.1:g.11992_12015dup , LRG_27:g.11992_12015dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695652.1:c.651-151_651-128dup	ENSP00000512083.1:n.651-151_651-128dup
ENST00000245907.11:c.774-151_774-128dup MANE Select	ENSP00000245907.4:n.774-151_774-128dup
ENST00000245907.10:c.774-151_774-128dup	ENSP00000245907.4:n.774-151_774-128dup
ENST00000595577.1:n.278-151_278-128dup
ENST00000597442.5:n.23+106_24-128dup
NM_000064.3:c.774-151_774-128dup	NP_000055.2:n.774-151_774-128dup
NM_000064.4:c.774-151_774-128dup MANE Select	NP_000055.2:n.774-151_774-128dup