Canonical Allele Identifier: CA9128593

Gene: C3

Linked Data

• dbSNP Id: rs749214770
• ExAC: 19:6685040 G / A
• gnomAD v2: 19-6685040-G-A
• gnomAD v4: 19-6685029-G-A
• COSMIC: COSM1235794
• MyVariant Identifiers: chr19:g.6685040G>A (hg19) ; chr19:g.6685029G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6685029G>A , CM000681.2:g.6685029G>A	GRCh38
NC_000019.9:g.6685040G>A , CM000681.1:g.6685040G>A	GRCh37
NC_000019.8:g.6636040G>A	NCBI36
NG_009557.1:g.40623C>T , LRG_27:g.40623C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2276C>T
ENST00000695653.1:c.1837C>T	ENSP00000512084.1:p.Arg613Cys
ENST00000695654.1:c.2953C>T	ENSP00000512085.1:p.Arg985Cys
ENST00000695690.1:n.119C>T
ENST00000695691.1:n.119C>T
ENST00000245907.11:c.3928C>T MANE Select	ENSP00000245907.4:p.Arg1310Cys
ENST00000245907.10:c.3928C>T	ENSP00000245907.4:p.Arg1310Cys
ENST00000596238.1:n.371C>T
ENST00000596548.1:c.10C>T	ENSP00000469744.1:p.Arg4Cys
ENST00000601008.1:c.241+1717C>T	ENSP00000471384.1:n.241+1717C>T
NM_000064.3:c.3928C>T	NP_000055.2:p.Arg1310Cys
NM_000064.4:c.3928C>T MANE Select	NP_000055.2:p.Arg1310Cys