Canonical Allele Identifier: CA304773375

Gene: C3

Linked Data

• dbSNP Id: rs1012012429
• gnomAD v2: 19-6682872-C-T
• gnomAD v3: 19-6682861-C-T
• gnomAD v4: 19-6682861-C-T
• MyVariant Identifiers: chr19:g.6682872C>T (hg19) ; chr19:g.6682861C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6682861C>T , CM000681.2:g.6682861C>T	GRCh38
NC_000019.9:g.6682872C>T , CM000681.1:g.6682872C>T	GRCh37
NC_000019.8:g.6633872C>T	NCBI36
NG_009557.1:g.42791G>A , LRG_27:g.42791G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000695651.1:n.2521-632G>A
ENST00000695653.1:c.2082-632G>A	ENSP00000512084.1:n.2082-632G>A
ENST00000695654.1:c.3198-632G>A	ENSP00000512085.1:n.3198-632G>A
ENST00000695689.1:c.84-195G>A	ENSP00000512101.1:n.84-195G>A
ENST00000695690.1:n.364-632G>A
ENST00000695691.1:n.364-632G>A
ENST00000245907.11:c.4173-632G>A MANE Select	ENSP00000245907.4:n.4173-632G>A
ENST00000245907.10:c.4173-632G>A	ENSP00000245907.4:n.4173-632G>A
ENST00000596548.1:c.294-632G>A	ENSP00000469744.1:n.294-632G>A
ENST00000599899.5:n.500G>A
ENST00000601008.1:c.241+3885G>A	ENSP00000471384.1:n.241+3885G>A
NM_000064.3:c.4173-632G>A	NP_000055.2:n.4173-632G>A
NM_000064.4:c.4173-632G>A MANE Select	NP_000055.2:n.4173-632G>A