Canonical Allele Identifier: CA631722132

Gene: C3

Linked Data

• dbSNP Id: rs1312322420
• gnomAD v2: 19-6713589-TG-T
• gnomAD v3: 19-6713578-TG-T
• gnomAD v4: 19-6713578-TG-T
• MyVariant Identifiers: chr19:g.6713590del (hg19) ; chr19:g.6713579del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6713579del , CM000681.2:g.6713579del	GRCh38
NC_000019.9:g.6713590del , CM000681.1:g.6713590del	GRCh37
NC_000019.8:g.6664590del	NCBI36
NG_009557.1:g.12073del , LRG_27:g.12073del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695652.1:c.651-70del	ENSP00000512083.1:n.651-70del
ENST00000695692.1:n.28del
ENST00000245907.11:c.774-70del MANE Select	ENSP00000245907.4:n.774-70del
ENST00000245907.10:c.774-70del	ENSP00000245907.4:n.774-70del
ENST00000595577.1:n.278-70del
ENST00000597442.5:n.24-70del
NM_000064.3:c.774-70del	NP_000055.2:n.774-70del
NM_000064.4:c.774-70del MANE Select	NP_000055.2:n.774-70del