Canonical Allele Identifier: CA304794715

Gene: C3

Linked Data

• dbSNP Id: rs112503636
• gnomAD v4: 19-6709989-GAA-G
• COSMIC: COSN18741883
• MyVariant Identifiers: chr19:g.6710001_6710002del (hg19) ; chr19:g.6709990_6709991del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6709991_6709992del , CM000681.2:g.6709991_6709992del	GRCh38
NC_000019.9:g.6710002_6710003del , CM000681.1:g.6710002_6710003del	GRCh37
NC_000019.8:g.6661002_6661003del	NCBI36
NG_009557.1:g.15661_15662del , LRG_27:g.15661_15662del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695652.1:c.1564-149_1564-148del	ENSP00000512083.1:n.1564-149_1564-148del
ENST00000695654.1:c.811-149_811-148del	ENSP00000512085.1:n.811-149_811-148del
ENST00000695655.1:c.592-113_592-112del	ENSP00000512086.1:n.592-113_592-112del
ENST00000695692.1:n.1051-149_1051-148del
ENST00000245907.11:c.1687-149_1687-148del MANE Select	ENSP00000245907.4:n.1687-149_1687-148del
ENST00000245907.10:c.1687-149_1687-148del	ENSP00000245907.4:n.1687-149_1687-148del
ENST00000600763.1:n.320-149_320-148del
NM_000064.3:c.1687-149_1687-148del	NP_000055.2:n.1687-149_1687-148del
NM_000064.4:c.1687-149_1687-148del MANE Select	NP_000055.2:n.1687-149_1687-148del