Canonical Allele Identifier: CA304785969

Gene: C3

Linked Data

• dbSNP Id: rs151287477
• MyVariant Identifiers: chr19:g.6697413T>G (hg19) ; chr19:g.6697402T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6697402T>G , CM000681.2:g.6697402T>G	GRCh38
NC_000019.9:g.6697413T>G , CM000681.1:g.6697413T>G	GRCh37
NC_000019.8:g.6648413T>G	NCBI36
NG_009557.1:g.28250A>C , LRG_27:g.28250A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.1086A>C
ENST00000695652.1:c.2615A>C	ENSP00000512083.1:p.Lys872Thr
ENST00000695653.1:c.647A>C	ENSP00000512084.1:p.Lys216Thr
ENST00000695654.1:c.1862A>C	ENSP00000512085.1:p.Lys621Thr
ENST00000695655.1:c.1679A>C	ENSP00000512086.1:n.1679A>C
ENST00000695692.1:n.2102A>C
ENST00000245907.11:c.2738A>C MANE Select	ENSP00000245907.4:p.Lys913Thr
ENST00000245907.10:c.2738A>C	ENSP00000245907.4:p.Lys913Thr
ENST00000594005.1:n.314A>C
NM_000064.3:c.2738A>C	NP_000055.2:p.Lys913Thr
NM_000064.4:c.2738A>C MANE Select	NP_000055.2:p.Lys913Thr