Canonical Allele Identifier: CA403612535

Gene: C3

Linked Data

• gnomAD v4: 19-6679407-C-T
• MyVariant Identifiers: chr19:g.6679418C>T (hg19) ; chr19:g.6679407C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6679407C>T , CM000681.2:g.6679407C>T	GRCh38
NC_000019.9:g.6679418C>T , CM000681.1:g.6679418C>T	GRCh37
NC_000019.8:g.6630418C>T	NCBI36
NG_009557.1:g.46245G>A , LRG_27:g.46245G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000695651.1:n.2894G>A
ENST00000695653.1:c.2455G>A	ENSP00000512084.1:p.Glu819Lys
ENST00000695654.1:c.3571G>A	ENSP00000512085.1:p.Glu1191Lys
ENST00000695689.1:c.517G>A	ENSP00000512101.1:n.517G>A
ENST00000695690.1:n.1611G>A
ENST00000695691.1:n.1407G>A
ENST00000245907.11:c.4546G>A MANE Select	ENSP00000245907.4:p.Glu1516Lys
ENST00000245907.10:c.4546G>A	ENSP00000245907.4:p.Glu1516Lys
ENST00000599668.1:n.141G>A
ENST00000599899.5:n.1505G>A
ENST00000601008.1:c.242-1449G>A	ENSP00000471384.1:n.242-1449G>A
NM_000064.3:c.4546G>A	NP_000055.2:p.Glu1516Lys
NM_000064.4:c.4546G>A MANE Select	NP_000055.2:p.Glu1516Lys