Canonical Allele Identifier: CA403620221

Gene: C3

Linked Data

• MyVariant Identifiers: chr19:g.6686286C>A (hg19) ; chr19:g.6686275C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6686275C>A , CM000681.2:g.6686275C>A	GRCh38
NC_000019.9:g.6686286C>A , CM000681.1:g.6686286C>A	GRCh37
NC_000019.8:g.6637286C>A	NCBI36
NG_009557.1:g.39377G>T , LRG_27:g.39377G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2007G>T
ENST00000695652.1:c.3536G>T	ENSP00000512083.1:p.Trp1179Leu
ENST00000695653.1:c.1568G>T	ENSP00000512084.1:p.Trp523Leu
ENST00000695654.1:c.2684G>T	ENSP00000512085.1:p.Trp895Leu
ENST00000695655.1:c.2600G>T	ENSP00000512086.1:n.2600G>T
ENST00000695692.1:n.3023G>T
ENST00000245907.11:c.3659G>T MANE Select	ENSP00000245907.4:p.Trp1220Leu
ENST00000245907.10:c.3659G>T	ENSP00000245907.4:p.Trp1220Leu
ENST00000596238.1:n.102G>T
ENST00000601008.1:c.241+471G>T	ENSP00000471384.1:n.241+471G>T
NM_000064.3:c.3659G>T	NP_000055.2:p.Trp1220Leu
NM_000064.4:c.3659G>T MANE Select	NP_000055.2:p.Trp1220Leu