Canonical Allele Identifier: CA505123558

Gene: C3

Linked Data

• ClinVar Variation Id: 1533460
• ClinVar RCV Id: RCV002102345
• dbSNP Id: rs2145396672
• MyVariant Identifiers: chr19:g.6685128A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6685117A>G , CM000681.2:g.6685117A>G	GRCh38
NC_000019.9:g.6685128A>G , CM000681.1:g.6685128A>G	GRCh37
NC_000019.8:g.6636128A>G	NCBI36
NG_009557.1:g.40535T>C , LRG_27:g.40535T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2188T>C
ENST00000695653.1:c.1749T>C	ENSP00000512084.1:p.Ala583=
ENST00000695654.1:c.2865T>C	ENSP00000512085.1:p.Ala955=
ENST00000695690.1:n.31T>C
ENST00000695691.1:n.31T>C
ENST00000245907.11:c.3840T>C MANE Select	ENSP00000245907.4:p.Ala1280=
ENST00000245907.10:c.3840T>C	ENSP00000245907.4:p.Ala1280=
ENST00000596238.1:n.283T>C
ENST00000601008.1:c.241+1629T>C	ENSP00000471384.1:n.241+1629T>C
NM_000064.3:c.3840T>C	NP_000055.2:p.Ala1280=
NM_000064.4:c.3840T>C MANE Select	NP_000055.2:p.Ala1280=