Canonical Allele Identifier: CA403619538

Gene: C3

Linked Data

• MyVariant Identifiers: chr19:g.6686180C>A (hg19) ; chr19:g.6686169C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6686169C>A , CM000681.2:g.6686169C>A	GRCh38
NC_000019.9:g.6686180C>A , CM000681.1:g.6686180C>A	GRCh37
NC_000019.8:g.6637180C>A	NCBI36
NG_009557.1:g.39483G>T , LRG_27:g.39483G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2113G>T
ENST00000695652.1:c.3642G>T	ENSP00000512083.1:p.Trp1214Cys
ENST00000695653.1:c.1674G>T	ENSP00000512084.1:p.Trp558Cys
ENST00000695654.1:c.2790G>T	ENSP00000512085.1:p.Trp930Cys
ENST00000695655.1:c.2706G>T	ENSP00000512086.1:n.2706G>T
ENST00000695692.1:n.3129G>T
ENST00000245907.11:c.3765G>T MANE Select	ENSP00000245907.4:p.Trp1255Cys
ENST00000245907.10:c.3765G>T	ENSP00000245907.4:p.Trp1255Cys
ENST00000596238.1:n.208G>T
ENST00000601008.1:c.241+577G>T	ENSP00000471384.1:n.241+577G>T
NM_000064.3:c.3765G>T	NP_000055.2:p.Trp1255Cys
NM_000064.4:c.3765G>T MANE Select	NP_000055.2:p.Trp1255Cys