Canonical Allele Identifier: CA9128599

Gene: C3

Linked Data

• dbSNP Id: rs775015499
• ExAC: 19:6685060 C / A
• gnomAD v4: 19-6685049-C-A
• MyVariant Identifiers: chr19:g.6685060C>A (hg19) ; chr19:g.6685049C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6685049C>A , CM000681.2:g.6685049C>A	GRCh38
NC_000019.9:g.6685060C>A , CM000681.1:g.6685060C>A	GRCh37
NC_000019.8:g.6636060C>A	NCBI36
NG_009557.1:g.40603G>T , LRG_27:g.40603G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2256G>T
ENST00000695653.1:c.1817G>T	ENSP00000512084.1:p.Arg606Leu
ENST00000695654.1:c.2933G>T	ENSP00000512085.1:p.Arg978Leu
ENST00000695690.1:n.99G>T
ENST00000695691.1:n.99G>T
ENST00000245907.11:c.3908G>T MANE Select	ENSP00000245907.4:p.Arg1303Leu
ENST00000245907.10:c.3908G>T	ENSP00000245907.4:p.Arg1303Leu
ENST00000596238.1:n.351G>T
ENST00000601008.1:c.241+1697G>T	ENSP00000471384.1:n.241+1697G>T
NM_000064.3:c.3908G>T	NP_000055.2:p.Arg1303Leu
NM_000064.4:c.3908G>T MANE Select	NP_000055.2:p.Arg1303Leu