Canonical Allele Identifier: CA9128486

Gene: C3

Linked Data

• dbSNP Id: rs756586729
• ExAC: 19:6682286 GC / G
• gnomAD v2: 19-6682286-GC-G
• gnomAD v4: 19-6682275-GC-G
• MyVariant Identifiers: chr19:g.6682287del (hg19) ; chr19:g.6682276del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6682279del , CM000681.2:g.6682279del	GRCh38
NC_000019.9:g.6682290del , CM000681.1:g.6682290del	GRCh37
NC_000019.8:g.6633290del	NCBI36
NG_009557.1:g.43376del , LRG_27:g.43376del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2521-47del
ENST00000695653.1:c.2082-47del	ENSP00000512084.1:n.2082-47del
ENST00000695654.1:c.3198-47del	ENSP00000512085.1:n.3198-47del
ENST00000695689.1:c.144-47del	ENSP00000512101.1:n.144-47del
ENST00000695690.1:n.364-47del
ENST00000695691.1:n.364-47del
ENST00000245907.11:c.4173-47del MANE Select	ENSP00000245907.4:n.4173-47del
ENST00000245907.10:c.4173-47del	ENSP00000245907.4:n.4173-47del
ENST00000596548.1:c.294-47del	ENSP00000469744.1:n.294-47del
ENST00000599899.5:n.1085del
ENST00000601008.1:c.242-4318del	ENSP00000471384.1:n.242-4318del
NM_000064.3:c.4173-47del	NP_000055.2:n.4173-47del
NM_000064.4:c.4173-47del MANE Select	NP_000055.2:n.4173-47del