Canonical Allele Identifier: CA304786520

Gene: C3

Linked Data

• dbSNP Id: rs766542957
• gnomAD v2: 19-6698015-ATT-A
• gnomAD v3: 19-6698004-ATT-A
• gnomAD v4: 19-6698004-ATT-A
• MyVariant Identifiers: chr19:g.6698016_6698017del (hg19) ; chr19:g.6698005_6698006del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6698005_6698006del , CM000681.2:g.6698005_6698006del	GRCh38
NC_000019.9:g.6698016_6698017del , CM000681.1:g.6698016_6698017del	GRCh37
NC_000019.8:g.6649016_6649017del	NCBI36
NG_009557.1:g.27646_27647del , LRG_27:g.27646_27647del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.789-212_789-211del
ENST00000695652.1:c.2318-212_2318-211del	ENSP00000512083.1:n.2318-212_2318-211del
ENST00000695653.1:c.350-212_350-211del	ENSP00000512084.1:n.350-212_350-211del
ENST00000695654.1:c.1565-212_1565-211del	ENSP00000512085.1:n.1565-212_1565-211del
ENST00000695655.1:c.1382-212_1382-211del	ENSP00000512086.1:n.1382-212_1382-211del
ENST00000695692.1:n.1805-212_1805-211del
ENST00000245907.11:c.2441-212_2441-211del MANE Select	ENSP00000245907.4:n.2441-212_2441-211del
ENST00000245907.10:c.2441-212_2441-211del	ENSP00000245907.4:n.2441-212_2441-211del
ENST00000602053.1:n.489-212_489-211del
NM_000064.3:c.2441-212_2441-211del	NP_000055.2:n.2441-212_2441-211del
NM_000064.4:c.2441-212_2441-211del MANE Select	NP_000055.2:n.2441-212_2441-211del