Canonical Allele Identifier: CA304786517

Gene: C3

Linked Data

• dbSNP Id: rs1016503708
• gnomAD v2: 19-6698016-T-A
• gnomAD v3: 19-6698005-T-A
• gnomAD v4: 19-6698005-T-A
• MyVariant Identifiers: chr19:g.6698016T>A (hg19) ; chr19:g.6698005T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6698005T>A , CM000681.2:g.6698005T>A	GRCh38
NC_000019.9:g.6698016T>A , CM000681.1:g.6698016T>A	GRCh37
NC_000019.8:g.6649016T>A	NCBI36
NG_009557.1:g.27647A>T , LRG_27:g.27647A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.789-211A>T
ENST00000695652.1:c.2318-211A>T	ENSP00000512083.1:n.2318-211A>T
ENST00000695653.1:c.350-211A>T	ENSP00000512084.1:n.350-211A>T
ENST00000695654.1:c.1565-211A>T	ENSP00000512085.1:n.1565-211A>T
ENST00000695655.1:c.1382-211A>T	ENSP00000512086.1:n.1382-211A>T
ENST00000695692.1:n.1805-211A>T
ENST00000245907.11:c.2441-211A>T MANE Select	ENSP00000245907.4:n.2441-211A>T
ENST00000245907.10:c.2441-211A>T	ENSP00000245907.4:n.2441-211A>T
ENST00000602053.1:n.489-211A>T
NM_000064.3:c.2441-211A>T	NP_000055.2:n.2441-211A>T
NM_000064.4:c.2441-211A>T MANE Select	NP_000055.2:n.2441-211A>T