Canonical Allele Identifier: CA304775790

Gene: C3

Linked Data

• dbSNP Id: rs1049667794
• MyVariant Identifiers: chr19:g.6686214T>G (hg19) ; chr19:g.6686203T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6686203T>G , CM000681.2:g.6686203T>G	GRCh38
NC_000019.9:g.6686214T>G , CM000681.1:g.6686214T>G	GRCh37
NC_000019.8:g.6637214T>G	NCBI36
NG_009557.1:g.39449A>C , LRG_27:g.39449A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2079A>C
ENST00000695652.1:c.3608A>C	ENSP00000512083.1:p.Lys1203Thr
ENST00000695653.1:c.1640A>C	ENSP00000512084.1:p.Lys547Thr
ENST00000695654.1:c.2756A>C	ENSP00000512085.1:p.Lys919Thr
ENST00000695655.1:c.2672A>C	ENSP00000512086.1:n.2672A>C
ENST00000695692.1:n.3095A>C
ENST00000245907.11:c.3731A>C MANE Select	ENSP00000245907.4:p.Lys1244Thr
ENST00000245907.10:c.3731A>C	ENSP00000245907.4:p.Lys1244Thr
ENST00000596238.1:n.174A>C
ENST00000601008.1:c.241+543A>C	ENSP00000471384.1:n.241+543A>C
NM_000064.3:c.3731A>C	NP_000055.2:p.Lys1244Thr
NM_000064.4:c.3731A>C MANE Select	NP_000055.2:p.Lys1244Thr