Canonical Allele Identifier: CA884164068

Gene: C3

Linked Data

• dbSNP Id: rs1377489794
• gnomAD v3: 19-6678993-A-T
• gnomAD v4: 19-6678993-A-T
• MyVariant Identifiers: chr19:g.6679004A>T (hg19) ; chr19:g.6678993A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6678993A>T , CM000681.2:g.6678993A>T	GRCh38
NC_000019.9:g.6679004A>T , CM000681.1:g.6679004A>T	GRCh37
NC_000019.8:g.6630004A>T	NCBI36
NG_009557.1:g.46659T>A , LRG_27:g.46659T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2978+132T>A
ENST00000695653.1:c.2539+132T>A	ENSP00000512084.1:n.2539+132T>A
ENST00000695654.1:c.3655+132T>A	ENSP00000512085.1:n.3655+132T>A
ENST00000695689.1:c.601+132T>A	ENSP00000512101.1:n.601+132T>A
ENST00000695690.1:n.1695+132T>A
ENST00000695691.1:n.1491+132T>A
ENST00000245907.11:c.4630+132T>A MANE Select	ENSP00000245907.4:n.4630+132T>A
ENST00000245907.10:c.4630+132T>A	ENSP00000245907.4:n.4630+132T>A
ENST00000599668.1:n.250+132T>A
ENST00000599899.5:n.1589+132T>A
ENST00000601008.1:c.242-1035T>A	ENSP00000471384.1:n.242-1035T>A
ENST00000602229.1:c.77+132T>A
NM_000064.3:c.4630+132T>A	NP_000055.2:n.4630+132T>A
NM_000064.4:c.4630+132T>A MANE Select	NP_000055.2:n.4630+132T>A