Canonical Allele Identifier: CA403618626

Gene: C3

Linked Data

• MyVariant Identifiers: chr19:g.6685141A>C (hg19) ; chr19:g.6685130A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6685130A>C , CM000681.2:g.6685130A>C	GRCh38
NC_000019.9:g.6685141A>C , CM000681.1:g.6685141A>C	GRCh37
NC_000019.8:g.6636141A>C	NCBI36
NG_009557.1:g.40522T>G , LRG_27:g.40522T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000695651.1:n.2175T>G
ENST00000695653.1:c.1736T>G	ENSP00000512084.1:p.Phe579Cys
ENST00000695654.1:c.2852T>G	ENSP00000512085.1:p.Phe951Cys
ENST00000695690.1:n.18T>G
ENST00000695691.1:n.18T>G
ENST00000245907.11:c.3827T>G MANE Select	ENSP00000245907.4:p.Phe1276Cys
ENST00000245907.10:c.3827T>G	ENSP00000245907.4:p.Phe1276Cys
ENST00000596238.1:n.270T>G
ENST00000601008.1:c.241+1616T>G	ENSP00000471384.1:n.241+1616T>G
NM_000064.3:c.3827T>G	NP_000055.2:p.Phe1276Cys
NM_000064.4:c.3827T>G MANE Select	NP_000055.2:p.Phe1276Cys