Canonical Allele Identifier: CA403632502

Gene: C3

Linked Data

• MyVariant Identifiers: chr19:g.6697365A>C (hg19) ; chr19:g.6697354A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6697354A>C , CM000681.2:g.6697354A>C	GRCh38
NC_000019.9:g.6697365A>C , CM000681.1:g.6697365A>C	GRCh37
NC_000019.8:g.6648365A>C	NCBI36
NG_009557.1:g.28298T>G , LRG_27:g.28298T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.1134T>G
ENST00000695652.1:c.2663T>G	ENSP00000512083.1:p.Leu888Arg
ENST00000695653.1:c.695T>G	ENSP00000512084.1:p.Leu232Arg
ENST00000695654.1:c.1910T>G	ENSP00000512085.1:p.Leu637Arg
ENST00000695655.1:c.1727T>G	ENSP00000512086.1:n.1727T>G
ENST00000695692.1:n.2150T>G
ENST00000245907.11:c.2786T>G MANE Select	ENSP00000245907.4:p.Leu929Arg
ENST00000245907.10:c.2786T>G	ENSP00000245907.4:p.Leu929Arg
ENST00000594005.1:n.362T>G
NM_000064.3:c.2786T>G	NP_000055.2:p.Leu929Arg
NM_000064.4:c.2786T>G MANE Select	NP_000055.2:p.Leu929Arg