Canonical Allele Identifier: CA631653538
Gene: C3 HGNC NCBI

Linked Data

dbSNP Id: rs1218480967
gnomAD v2: 19-6685913-CAAG-C
gnomAD v3: 19-6685902-CAAG-C
gnomAD v4: 19-6685902-CAAG-C
MyVariant Identifiers: chr19:g.6685914_6685916del (hg19) chr19:g.6685903_6685905del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6685909_6685911del , CM000681.2:g.6685909_6685911del GRCh38
NC_000019.9:g.6685920_6685922del , CM000681.1:g.6685920_6685922del GRCh37
NC_000019.8:g.6636920_6636922del NCBI36
NG_009557.1:g.39747_39749del , LRG_27:g.39747_39749del

Transcript Alleles

HGVS Amino-acid change
ENST00000695651.1:n.2158+219_2158+221del
ENST00000695653.1:c.1719+219_1719+221del ENSP00000512084.1:n.1719+219_1719+221del
ENST00000695654.1:c.2835+219_2835+221del ENSP00000512085.1:n.2835+219_2835+221del
ENST00000245907.11:c.3810+219_3810+221del MANE Select ENSP00000245907.4:n.3810+219_3810+221del
ENST00000245907.10:c.3810+219_3810+221del ENSP00000245907.4:n.3810+219_3810+221del
ENST00000596238.1:n.253+219_253+221del
ENST00000601008.1:c.241+841_241+843del ENSP00000471384.1:n.241+841_241+843del
NM_000064.3:c.3810+219_3810+221del NP_000055.2:n.3810+219_3810+221del
NM_000064.4:c.3810+219_3810+221del MANE Select NP_000055.2:n.3810+219_3810+221del
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