Canonical Allele Identifier: CA9128572

Gene: C3

Linked Data

• dbSNP Id: rs748108113
• ExAC: 19:6684954 G / A
• gnomAD v2: 19-6684954-G-A
• gnomAD v4: 19-6684943-G-A
• MyVariant Identifiers: chr19:g.6684954G>A (hg19) ; chr19:g.6684943G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6684943G>A , CM000681.2:g.6684943G>A	GRCh38
NC_000019.9:g.6684954G>A , CM000681.1:g.6684954G>A	GRCh37
NC_000019.8:g.6635954G>A	NCBI36
NG_009557.1:g.40709C>T , LRG_27:g.40709C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2317+45C>T
ENST00000695653.1:c.1878+45C>T	ENSP00000512084.1:n.1878+45C>T
ENST00000695654.1:c.2994+45C>T	ENSP00000512085.1:n.2994+45C>T
ENST00000695690.1:n.160+45C>T
ENST00000695691.1:n.160+45C>T
ENST00000245907.11:c.3969+45C>T MANE Select	ENSP00000245907.4:n.3969+45C>T
ENST00000245907.10:c.3969+45C>T	ENSP00000245907.4:n.3969+45C>T
ENST00000596238.1:n.412+45C>T
ENST00000596548.1:c.51+45C>T	ENSP00000469744.1:n.51+45C>T
ENST00000601008.1:c.241+1803C>T	ENSP00000471384.1:n.241+1803C>T
NM_000064.3:c.3969+45C>T	NP_000055.2:n.3969+45C>T
NM_000064.4:c.3969+45C>T MANE Select	NP_000055.2:n.3969+45C>T