Canonical Allele Identifier: CA2587873327

Gene: C3

Linked Data

• dbSNP Id: rs2145397720
• gnomAD v4: 19-6685987-TCTCAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6685991_6685995del , CM000681.2:g.6685991_6685995del	GRCh38
NC_000019.9:g.6686002_6686006del , CM000681.1:g.6686002_6686006del	GRCh37
NC_000019.8:g.6637002_6637006del	NCBI36
NG_009557.1:g.39660_39664del , LRG_27:g.39660_39664del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2158+132_2158+136del
ENST00000695653.1:c.1719+132_1719+136del	ENSP00000512084.1:n.1719+132_1719+136del
ENST00000695654.1:c.2835+132_2835+136del	ENSP00000512085.1:n.2835+132_2835+136del
ENST00000245907.11:c.3810+132_3810+136del MANE Select	ENSP00000245907.4:n.3810+132_3810+136del
ENST00000245907.10:c.3810+132_3810+136del	ENSP00000245907.4:n.3810+132_3810+136del
ENST00000596238.1:n.253+132_253+136del
ENST00000601008.1:c.241+754_241+758del	ENSP00000471384.1:n.241+754_241+758del
NM_000064.3:c.3810+132_3810+136del	NP_000055.2:n.3810+132_3810+136del
NM_000064.4:c.3810+132_3810+136del MANE Select	NP_000055.2:n.3810+132_3810+136del