Canonical Allele Identifier: CA403619753

Gene: C3

Linked Data

• MyVariant Identifiers: chr19:g.6686214T>A (hg19) ; chr19:g.6686203T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6686203T>A , CM000681.2:g.6686203T>A	GRCh38
NC_000019.9:g.6686214T>A , CM000681.1:g.6686214T>A	GRCh37
NC_000019.8:g.6637214T>A	NCBI36
NG_009557.1:g.39449A>T , LRG_27:g.39449A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2079A>T
ENST00000695652.1:c.3608A>T	ENSP00000512083.1:p.Lys1203Ile
ENST00000695653.1:c.1640A>T	ENSP00000512084.1:p.Lys547Ile
ENST00000695654.1:c.2756A>T	ENSP00000512085.1:p.Lys919Ile
ENST00000695655.1:c.2672A>T	ENSP00000512086.1:n.2672A>T
ENST00000695692.1:n.3095A>T
ENST00000245907.11:c.3731A>T MANE Select	ENSP00000245907.4:p.Lys1244Ile
ENST00000245907.10:c.3731A>T	ENSP00000245907.4:p.Lys1244Ile
ENST00000596238.1:n.174A>T
ENST00000601008.1:c.241+543A>T	ENSP00000471384.1:n.241+543A>T
NM_000064.3:c.3731A>T	NP_000055.2:p.Lys1244Ile
NM_000064.4:c.3731A>T MANE Select	NP_000055.2:p.Lys1244Ile