Canonical Allele Identifier: CA631657372

Gene: C3

Linked Data

• dbSNP Id: rs1426142135
• gnomAD v2: 19-6697999-A-ATTT
• gnomAD v3: 19-6697988-A-ATTT
• gnomAD v4: 19-6697988-A-ATTT
• MyVariant Identifiers: chr19:g.6697999_6698000insTTT (hg19) ; chr19:g.6697988_6697989insTTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6697989_6697991dup , CM000681.2:g.6697989_6697991dup	GRCh38
NC_000019.9:g.6698000_6698002dup , CM000681.1:g.6698000_6698002dup	GRCh37
NC_000019.8:g.6649000_6649002dup	NCBI36
NG_009557.1:g.27661_27663dup , LRG_27:g.27661_27663dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.789-197_789-195dup
ENST00000695652.1:c.2318-197_2318-195dup	ENSP00000512083.1:n.2318-197_2318-195dup
ENST00000695653.1:c.350-197_350-195dup	ENSP00000512084.1:n.350-197_350-195dup
ENST00000695654.1:c.1565-197_1565-195dup	ENSP00000512085.1:n.1565-197_1565-195dup
ENST00000695655.1:c.1382-197_1382-195dup	ENSP00000512086.1:n.1382-197_1382-195dup
ENST00000695692.1:n.1805-197_1805-195dup
ENST00000245907.11:c.2441-197_2441-195dup MANE Select	ENSP00000245907.4:n.2441-197_2441-195dup
ENST00000245907.10:c.2441-197_2441-195dup	ENSP00000245907.4:n.2441-197_2441-195dup
ENST00000602053.1:n.489-197_489-195dup
NM_000064.3:c.2441-197_2441-195dup	NP_000055.2:n.2441-197_2441-195dup
NM_000064.4:c.2441-197_2441-195dup MANE Select	NP_000055.2:n.2441-197_2441-195dup