Canonical Allele Identifier: CA403612571

Gene: C3

Linked Data

• MyVariant Identifiers: chr19:g.6679425A>C (hg19) ; chr19:g.6679414A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6679414A>C , CM000681.2:g.6679414A>C	GRCh38
NC_000019.9:g.6679425A>C , CM000681.1:g.6679425A>C	GRCh37
NC_000019.8:g.6630425A>C	NCBI36
NG_009557.1:g.46238T>G , LRG_27:g.46238T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000695651.1:n.2887T>G
ENST00000695653.1:c.2448T>G	ENSP00000512084.1:p.Cys816Trp
ENST00000695654.1:c.3564T>G	ENSP00000512085.1:p.Cys1188Trp
ENST00000695689.1:c.510T>G	ENSP00000512101.1:n.510T>G
ENST00000695690.1:n.1604T>G
ENST00000695691.1:n.1400T>G
ENST00000245907.11:c.4539T>G MANE Select	ENSP00000245907.4:p.Cys1513Trp
ENST00000245907.10:c.4539T>G	ENSP00000245907.4:p.Cys1513Trp
ENST00000599668.1:n.134T>G
ENST00000599899.5:n.1498T>G
ENST00000601008.1:c.242-1456T>G	ENSP00000471384.1:n.242-1456T>G
NM_000064.3:c.4539T>G	NP_000055.2:p.Cys1513Trp
NM_000064.4:c.4539T>G MANE Select	NP_000055.2:p.Cys1513Trp