Canonical Allele Identifier: CA304786448

Gene: C3

Linked Data

• dbSNP Id: rs562308025
• gnomAD v3: 19-6697875-C-T
• gnomAD v4: 19-6697875-C-T
• MyVariant Identifiers: chr19:g.6697886C>T (hg19) ; chr19:g.6697875C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6697875C>T , CM000681.2:g.6697875C>T	GRCh38
NC_000019.9:g.6697886C>T , CM000681.1:g.6697886C>T	GRCh37
NC_000019.8:g.6648886C>T	NCBI36
NG_009557.1:g.27777G>A , LRG_27:g.27777G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.789-81G>A
ENST00000695652.1:c.2318-81G>A	ENSP00000512083.1:n.2318-81G>A
ENST00000695653.1:c.350-81G>A	ENSP00000512084.1:n.350-81G>A
ENST00000695654.1:c.1565-81G>A	ENSP00000512085.1:n.1565-81G>A
ENST00000695655.1:c.1382-81G>A	ENSP00000512086.1:n.1382-81G>A
ENST00000695692.1:n.1805-81G>A
ENST00000245907.11:c.2441-81G>A MANE Select	ENSP00000245907.4:n.2441-81G>A
ENST00000245907.10:c.2441-81G>A	ENSP00000245907.4:n.2441-81G>A
ENST00000602053.1:n.489-81G>A
NM_000064.3:c.2441-81G>A	NP_000055.2:n.2441-81G>A
NM_000064.4:c.2441-81G>A MANE Select	NP_000055.2:n.2441-81G>A