Canonical Allele Identifier: CA403642780

Gene: C3

Linked Data

• MyVariant Identifiers: chr19:g.6713506T>G (hg19) ; chr19:g.6713495T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6713495T>G , CM000681.2:g.6713495T>G	GRCh38
NC_000019.9:g.6713506T>G , CM000681.1:g.6713506T>G	GRCh37
NC_000019.8:g.6664506T>G	NCBI36
NG_009557.1:g.12157A>C , LRG_27:g.12157A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695652.1:c.665A>C	ENSP00000512083.1:p.Lys222Thr
ENST00000695692.1:n.112A>C
ENST00000245907.11:c.788A>C MANE Select	ENSP00000245907.4:p.Lys263Thr
ENST00000245907.10:c.788A>C	ENSP00000245907.4:p.Lys263Thr
ENST00000595577.1:n.292A>C
ENST00000597442.5:n.38A>C
NM_000064.3:c.788A>C	NP_000055.2:p.Lys263Thr
NM_000064.4:c.788A>C MANE Select	NP_000055.2:p.Lys263Thr