Canonical Allele Identifier: CA884131059

Gene: C3

Linked Data

• dbSNP Id: rs1241255419
• gnomAD v3: 19-6712958-G-GA
• gnomAD v4: 19-6712958-G-GA
• MyVariant Identifiers: chr19:g.6712969_6712970insA (hg19) ; chr19:g.6712958_6712959insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6712958_6712959insA , CM000681.2:g.6712958_6712959insA	GRCh38
NC_000019.9:g.6712969_6712970insA , CM000681.1:g.6712969_6712970insA	GRCh37
NC_000019.8:g.6663969_6663970insA	NCBI36
NG_009557.1:g.12693_12694insT , LRG_27:g.12693_12694insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695652.1:c.880+230_880+231insT	ENSP00000512083.1:n.880+230_880+231insT
ENST00000695654.1:c.127+230_127+231insT	ENSP00000512085.1:n.127+230_127+231insT
ENST00000695692.1:n.327+230_327+231insT
ENST00000245907.11:c.1003+230_1003+231insT MANE Select	ENSP00000245907.4:n.1003+230_1003+231insT
ENST00000245907.10:c.1003+230_1003+231insT	ENSP00000245907.4:n.1003+230_1003+231insT
ENST00000594270.5:n.127+230_127+231insT
ENST00000595577.1:n.507+230_507+231insT
ENST00000597442.5:n.253+230_253+231insT
NM_000064.3:c.1003+230_1003+231insT	NP_000055.2:n.1003+230_1003+231insT
NM_000064.4:c.1003+230_1003+231insT MANE Select	NP_000055.2:n.1003+230_1003+231insT