Canonical Allele Identifier: CA2320559257

Gene: C3

Linked Data

• dbSNP Id: rs1967573080
• gnomAD v4: 19-6697856-TGGGTCTCAGCTCTTAGTCCACTCCGCA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6697859_6697885del , CM000681.2:g.6697859_6697885del	GRCh38
NC_000019.9:g.6697870_6697896del , CM000681.1:g.6697870_6697896del	GRCh37
NC_000019.8:g.6648870_6648896del	NCBI36
NG_009557.1:g.27769_27795del , LRG_27:g.27769_27795del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.789-89_789-63del
ENST00000695652.1:c.2318-89_2318-63del	ENSP00000512083.1:n.2318-89_2318-63del
ENST00000695653.1:c.350-89_350-63del	ENSP00000512084.1:n.350-89_350-63del
ENST00000695654.1:c.1565-89_1565-63del	ENSP00000512085.1:n.1565-89_1565-63del
ENST00000695655.1:c.1382-89_1382-63del	ENSP00000512086.1:n.1382-89_1382-63del
ENST00000695692.1:n.1805-89_1805-63del
ENST00000245907.11:c.2441-89_2441-63del MANE Select	ENSP00000245907.4:n.2441-89_2441-63del
ENST00000245907.10:c.2441-89_2441-63del	ENSP00000245907.4:n.2441-89_2441-63del
ENST00000602053.1:n.489-89_489-63del
NM_000064.3:c.2441-89_2441-63del	NP_000055.2:n.2441-89_2441-63del
NM_000064.4:c.2441-89_2441-63del MANE Select	NP_000055.2:n.2441-89_2441-63del