Canonical Allele Identifier: CA993064396
Gene: C3 HGNC NCBI

Linked Data

dbSNP Id: rs1917870903

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6681881del , CM000681.2:g.6681881del GRCh38
NC_000019.9:g.6681892del , CM000681.1:g.6681892del GRCh37
NC_000019.8:g.6632892del NCBI36
NG_009557.1:g.43771del , LRG_27:g.43771del

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2698+60del
ENST00000695653.1:c.2259+60del ENSP00000512084.1:n.2259+60del
ENST00000695654.1:c.3375+60del ENSP00000512085.1:n.3375+60del
ENST00000695689.1:c.321+60del ENSP00000512101.1:n.321+60del
ENST00000695690.1:n.601del
ENST00000695691.1:n.601del
ENST00000245907.11:c.4350+60del MANE Select ENSP00000245907.4:n.4350+60del
ENST00000245907.10:c.4350+60del ENSP00000245907.4:n.4350+60del
ENST00000596548.1:c.471+60del ENSP00000469744.1:n.471+60del
ENST00000599899.5:n.1309+60del
ENST00000601008.1:c.242-3923del ENSP00000471384.1:n.242-3923del
NM_000064.3:c.4350+60del NP_000055.2:n.4350+60del
NM_000064.4:c.4350+60del MANE Select NP_000055.2:n.4350+60del