Canonical Allele Identifier: CA403632495

Gene: C3

Linked Data

• MyVariant Identifiers: chr19:g.6697362T>G (hg19) ; chr19:g.6697351T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6697351T>G , CM000681.2:g.6697351T>G	GRCh38
NC_000019.9:g.6697362T>G , CM000681.1:g.6697362T>G	GRCh37
NC_000019.8:g.6648362T>G	NCBI36
NG_009557.1:g.28301A>C , LRG_27:g.28301A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.1137A>C
ENST00000695652.1:c.2666A>C	ENSP00000512083.1:p.Lys889Thr
ENST00000695653.1:c.698A>C	ENSP00000512084.1:p.Lys233Thr
ENST00000695654.1:c.1913A>C	ENSP00000512085.1:p.Lys638Thr
ENST00000695655.1:c.1730A>C	ENSP00000512086.1:n.1730A>C
ENST00000695692.1:n.2153A>C
ENST00000245907.11:c.2789A>C MANE Select	ENSP00000245907.4:p.Lys930Thr
ENST00000245907.10:c.2789A>C	ENSP00000245907.4:p.Lys930Thr
ENST00000594005.1:n.365A>C
NM_000064.3:c.2789A>C	NP_000055.2:p.Lys930Thr
NM_000064.4:c.2789A>C MANE Select	NP_000055.2:p.Lys930Thr