Canonical Allele Identifier: CA631657313

Gene: C3

Linked Data

• dbSNP Id: rs1437391008
• gnomAD v2: 19-6697823-GAACACGGAGTGTC-G
• gnomAD v3: 19-6697812-GAACACGGAGTGTC-G
• gnomAD v4: 19-6697812-GAACACGGAGTGTC-G
• MyVariant Identifiers: chr19:g.6697824_6697836del (hg19) ; chr19:g.6697813_6697825del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6697815_6697827del , CM000681.2:g.6697815_6697827del	GRCh38
NC_000019.9:g.6697826_6697838del , CM000681.1:g.6697826_6697838del	GRCh37
NC_000019.8:g.6648826_6648838del	NCBI36
NG_009557.1:g.27827_27839del , LRG_27:g.27827_27839del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.789-31_789-19del
ENST00000695652.1:c.2318-31_2318-19del	ENSP00000512083.1:n.2318-31_2318-19del
ENST00000695653.1:c.350-31_350-19del	ENSP00000512084.1:n.350-31_350-19del
ENST00000695654.1:c.1565-31_1565-19del	ENSP00000512085.1:n.1565-31_1565-19del
ENST00000695655.1:c.1382-31_1382-19del	ENSP00000512086.1:n.1382-31_1382-19del
ENST00000695692.1:n.1805-31_1805-19del
ENST00000245907.11:c.2441-31_2441-19del MANE Select	ENSP00000245907.4:n.2441-31_2441-19del
ENST00000245907.10:c.2441-31_2441-19del	ENSP00000245907.4:n.2441-31_2441-19del
ENST00000602053.1:n.489-31_489-19del
NM_000064.3:c.2441-31_2441-19del	NP_000055.2:n.2441-31_2441-19del
NM_000064.4:c.2441-31_2441-19del MANE Select	NP_000055.2:n.2441-31_2441-19del