Canonical Allele Identifier: CA631659009

Gene: C3

Linked Data

• dbSNP Id: rs1434015956
• gnomAD v2: 19-6701509-TGTC-T
• gnomAD v3: 19-6701498-TGTC-T
• gnomAD v4: 19-6701498-TGTC-T
• MyVariant Identifiers: chr19:g.6701510_6701512del (hg19) ; chr19:g.6701499_6701501del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6701502_6701504del , CM000681.2:g.6701502_6701504del	GRCh38
NC_000019.9:g.6701513_6701515del , CM000681.1:g.6701513_6701515del	GRCh37
NC_000019.8:g.6652513_6652515del	NCBI36
NG_009557.1:g.24151_24153del , LRG_27:g.24151_24153del

Transcript Alleles

HGVS	Amino-acid change
ENST00000695651.1:n.788+626_788+628del
ENST00000695652.1:c.2317+626_2317+628del	ENSP00000512083.1:n.2317+626_2317+628del
ENST00000695653.1:c.349+626_349+628del	ENSP00000512084.1:n.349+626_349+628del
ENST00000695654.1:c.1564+626_1564+628del	ENSP00000512085.1:n.1564+626_1564+628del
ENST00000695655.1:c.1381+626_1381+628del	ENSP00000512086.1:n.1381+626_1381+628del
ENST00000695692.1:n.1804+626_1804+628del
ENST00000245907.11:c.2440+626_2440+628del MANE Select	ENSP00000245907.4:n.2440+626_2440+628del
ENST00000245907.10:c.2440+626_2440+628del	ENSP00000245907.4:n.2440+626_2440+628del
ENST00000602053.1:n.488+626_488+628del
NM_000064.3:c.2440+626_2440+628del	NP_000055.2:n.2440+626_2440+628del
NM_000064.4:c.2440+626_2440+628del MANE Select	NP_000055.2:n.2440+626_2440+628del