Canonical Allele Identifier: CA2580097038

Gene: C3

Linked Data

• ClinVar Variation Id: 1981558
• ClinVar RCV Id: RCV002785258

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6697394_6697395delinsTG , CM000681.2:g.6697394_6697395delinsTG	GRCh38
NC_000019.9:g.6697405_6697406delinsTG , CM000681.1:g.6697405_6697406delinsTG	GRCh37
NC_000019.8:g.6648405_6648406delinsTG	NCBI36
NG_009557.1:g.28257_28258delinsCA , LRG_27:g.28257_28258delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.1093_1094delinsCA
ENST00000695652.1:c.2622_2623delinsCA	ENSP00000512083.1:p.Val875Ile
ENST00000695653.1:c.654_655delinsCA	ENSP00000512084.1:p.Val219Ile
ENST00000695654.1:c.1869_1870delinsCA	ENSP00000512085.1:p.Val624Ile
ENST00000695655.1:c.1686_1687delinsCA	ENSP00000512086.1:n.1686_1687delinsCA
ENST00000695692.1:n.2109_2110delinsCA
ENST00000245907.11:c.2745_2746delinsCA MANE Select	ENSP00000245907.4:p.Val916Ile
ENST00000245907.10:c.2745_2746delinsCA	ENSP00000245907.4:p.Val916Ile
ENST00000594005.1:n.321_322delinsCA
NM_000064.3:c.2745_2746delinsCA	NP_000055.2:p.Val916Ile
NM_000064.4:c.2745_2746delinsCA MANE Select	NP_000055.2:p.Val916Ile