Canonical Allele Identifier: CA304786526

Gene: C3

Linked Data

• dbSNP Id: rs778196009
• gnomAD v2: 19-6698018-ATT-A
• gnomAD v3: 19-6698007-ATT-A
• gnomAD v4: 19-6698007-ATT-A
• MyVariant Identifiers: chr19:g.6698019_6698020del (hg19) ; chr19:g.6698019_6698034delinsATTATTATTATTAT (hg19) ; chr19:g.6698008_6698009del (hg38) ; chr19:g.6698008_6698023delinsATTATTATTATTAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6698008_6698009del , CM000681.2:g.6698008_6698009del	GRCh38
NC_000019.9:g.6698019_6698020del , CM000681.1:g.6698019_6698020del	GRCh37
NC_000019.8:g.6649019_6649020del	NCBI36
NG_009557.1:g.27643_27644del , LRG_27:g.27643_27644del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.789-215_789-214del
ENST00000695652.1:c.2318-215_2318-214del	ENSP00000512083.1:n.2318-215_2318-214del
ENST00000695653.1:c.350-215_350-214del	ENSP00000512084.1:n.350-215_350-214del
ENST00000695654.1:c.1565-215_1565-214del	ENSP00000512085.1:n.1565-215_1565-214del
ENST00000695655.1:c.1382-215_1382-214del	ENSP00000512086.1:n.1382-215_1382-214del
ENST00000695692.1:n.1805-215_1805-214del
ENST00000245907.11:c.2441-215_2441-214del MANE Select	ENSP00000245907.4:n.2441-215_2441-214del
ENST00000245907.10:c.2441-215_2441-214del	ENSP00000245907.4:n.2441-215_2441-214del
ENST00000602053.1:n.489-215_489-214del
NM_000064.3:c.2441-215_2441-214del	NP_000055.2:n.2441-215_2441-214del
NM_000064.4:c.2441-215_2441-214del MANE Select	NP_000055.2:n.2441-215_2441-214del