Canonical Allele Identifier: CA9128636

Gene: C3

Linked Data

• dbSNP Id: rs759307633
• ExAC: 19:6686129 ACTT / A
• gnomAD v2: 19-6686129-ACTT-A
• gnomAD v4: 19-6686118-ACTT-A
• MyVariant Identifiers: chr19:g.6686130_6686132del (hg19) ; chr19:g.6686119_6686121del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6686119_6686121del , CM000681.2:g.6686119_6686121del	GRCh38
NC_000019.9:g.6686130_6686132del , CM000681.1:g.6686130_6686132del	GRCh37
NC_000019.8:g.6637130_6637132del	NCBI36
NG_009557.1:g.39531_39533del , LRG_27:g.39531_39533del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2158+3_2158+5del
ENST00000695653.1:c.1719+3_1719+5del	ENSP00000512084.1:n.1719+3_1719+5del
ENST00000695654.1:c.2835+3_2835+5del	ENSP00000512085.1:n.2835+3_2835+5del
ENST00000695692.1:n.3177_3179del
ENST00000245907.11:c.3810+3_3810+5del MANE Select	ENSP00000245907.4:n.3810+3_3810+5del
ENST00000245907.10:c.3810+3_3810+5del	ENSP00000245907.4:n.3810+3_3810+5del
ENST00000596238.1:n.253+3_253+5del
ENST00000601008.1:c.241+625_241+627del	ENSP00000471384.1:n.241+625_241+627del
NM_000064.3:c.3810+3_3810+5del	NP_000055.2:n.3810+3_3810+5del
NM_000064.4:c.3810+3_3810+5del MANE Select	NP_000055.2:n.3810+3_3810+5del