Canonical Allele Identifier: CA2320555680
Gene: C3 HGNC NCBI

Linked Data

dbSNP Id: rs1918139119
gnomAD v4: 19-6690511-TGTC-T
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6690512_6690514del , CM000681.2:g.6690512_6690514del GRCh38
NC_000019.9:g.6690523_6690525del , CM000681.1:g.6690523_6690525del GRCh37
NC_000019.8:g.6641523_6641525del NCBI36
NG_009557.1:g.35138_35140del , LRG_27:g.35138_35140del

Transcript Alleles

HGVS Amino-acid change
ENST00000695651.1:n.1837+115_1837+117del
ENST00000695652.1:c.3366+115_3366+117del ENSP00000512083.1:n.3366+115_3366+117del
ENST00000695653.1:c.1398+115_1398+117del ENSP00000512084.1:n.1398+115_1398+117del
ENST00000695654.1:c.2514+2410_2514+2412del ENSP00000512085.1:n.2514+2410_2514+2412de...
ENST00000695655.1:c.2430+115_2430+117del ENSP00000512086.1:n.2430+115_2430+117del
ENST00000695692.1:n.2853+115_2853+117del
ENST00000245907.11:c.3489+115_3489+117del MANE Select ENSP00000245907.4:n.3489+115_3489+117del
ENST00000245907.10:c.3489+115_3489+117del ENSP00000245907.4:n.3489+115_3489+117del
ENST00000598805.2:n.259+115_259+117del
ENST00000601008.1:c.84+115_84+117del ENSP00000471384.1:n.84+115_84+117del
NM_000064.3:c.3489+115_3489+117del NP_000055.2:n.3489+115_3489+117del
NM_000064.4:c.3489+115_3489+117del MANE Select NP_000055.2:n.3489+115_3489+117del
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