Canonical Allele Identifier: CA631722444

Gene: C3

Linked Data

• dbSNP Id: rs1367664164
• gnomAD v2: 19-6709952-T-TG
• gnomAD v3: 19-6709941-T-TG
• gnomAD v4: 19-6709941-T-TG
• MyVariant Identifiers: chr19:g.6709952_6709953insG (hg19) ; chr19:g.6709941_6709942insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6709947dup , CM000681.2:g.6709947dup	GRCh38
NC_000019.9:g.6709958dup , CM000681.1:g.6709958dup	GRCh37
NC_000019.8:g.6660958dup	NCBI36
NG_009557.1:g.15710dup , LRG_27:g.15710dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695652.1:c.1564-100dup	ENSP00000512083.1:n.1564-100dup
ENST00000695654.1:c.811-100dup	ENSP00000512085.1:n.811-100dup
ENST00000695655.1:c.592-64dup	ENSP00000512086.1:n.592-64dup
ENST00000695692.1:n.1051-100dup
ENST00000245907.11:c.1687-100dup MANE Select	ENSP00000245907.4:n.1687-100dup
ENST00000245907.10:c.1687-100dup	ENSP00000245907.4:n.1687-100dup
ENST00000600763.1:n.320-100dup
NM_000064.3:c.1687-100dup	NP_000055.2:n.1687-100dup
NM_000064.4:c.1687-100dup MANE Select	NP_000055.2:n.1687-100dup