Canonical Allele Identifier: CA304773066

Gene: C3

Linked Data

• ClinVar Variation Id: 2739271
• ClinVar RCV Id: RCV003555435
• dbSNP Id: rs933914091
• gnomAD v4: 19-6682214-C-T
• MyVariant Identifiers: chr19:g.6682225C>T (hg19) ; chr19:g.6682214C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6682214C>T , CM000681.2:g.6682214C>T	GRCh38
NC_000019.9:g.6682225C>T , CM000681.1:g.6682225C>T	GRCh37
NC_000019.8:g.6633225C>T	NCBI36
NG_009557.1:g.43438G>A , LRG_27:g.43438G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2536G>A
ENST00000695653.1:c.2097G>A	ENSP00000512084.1:p.Gln699=
ENST00000695654.1:c.3213G>A	ENSP00000512085.1:p.Gln1071=
ENST00000695689.1:c.159G>A	ENSP00000512101.1:n.159G>A
ENST00000695690.1:n.379G>A
ENST00000695691.1:n.379G>A
ENST00000245907.11:c.4188G>A MANE Select	ENSP00000245907.4:p.Gln1396=
ENST00000245907.10:c.4188G>A	ENSP00000245907.4:p.Gln1396=
ENST00000596548.1:c.309G>A	ENSP00000469744.1:p.Gln103=
ENST00000599899.5:n.1147G>A
ENST00000601008.1:c.242-4256G>A	ENSP00000471384.1:n.242-4256G>A
NM_000064.3:c.4188G>A	NP_000055.2:p.Gln1396=
NM_000064.4:c.4188G>A MANE Select	NP_000055.2:p.Gln1396=