Canonical Allele Identifier: CA631722467

Gene: C3

Linked Data

• dbSNP Id: rs1967871964
• gnomAD v2: 19-6710052-AAGGGAGAGACAGGGAGAGAGACGGAGAGAC-A
• gnomAD v3: 19-6710041-AAGGGAGAGACAGGGAGAGAGACGGAGAGAC-A
• gnomAD v4: 19-6710041-AAGGGAGAGACAGGGAGAGAGACGGAGAGAC-A
• MyVariant Identifiers: chr19:g.6710053_6710082del (hg19) ; chr19:g.6710042_6710071del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6710051_6710080del , CM000681.2:g.6710051_6710080del	GRCh38
NC_000019.9:g.6710062_6710091del , CM000681.1:g.6710062_6710091del	GRCh37
NC_000019.8:g.6661062_6661091del	NCBI36
NG_009557.1:g.15581_15610del , LRG_27:g.15581_15610del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695652.1:c.1564-229_1564-200del	ENSP00000512083.1:n.1564-229_1564-200del
ENST00000695654.1:c.811-229_811-200del	ENSP00000512085.1:n.811-229_811-200del
ENST00000695655.1:c.592-193_592-164del	ENSP00000512086.1:n.592-193_592-164del
ENST00000695692.1:n.1051-229_1051-200del
ENST00000245907.11:c.1687-229_1687-200del MANE Select	ENSP00000245907.4:n.1687-229_1687-200del
ENST00000245907.10:c.1687-229_1687-200del	ENSP00000245907.4:n.1687-229_1687-200del
ENST00000600763.1:n.320-229_320-200del
NM_000064.3:c.1687-229_1687-200del	NP_000055.2:n.1687-229_1687-200del
NM_000064.4:c.1687-229_1687-200del MANE Select	NP_000055.2:n.1687-229_1687-200del