Canonical Allele Identifier: CA403614574

Gene: C3

Linked Data

• MyVariant Identifiers: chr19:g.6681969T>A (hg19) ; chr19:g.6681958T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6681958T>A , CM000681.2:g.6681958T>A	GRCh38
NC_000019.9:g.6681969T>A , CM000681.1:g.6681969T>A	GRCh37
NC_000019.8:g.6632969T>A	NCBI36
NG_009557.1:g.43694A>T , LRG_27:g.43694A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2681A>T
ENST00000695653.1:c.2242A>T	ENSP00000512084.1:p.Ile748Phe
ENST00000695654.1:c.3358A>T	ENSP00000512085.1:p.Ile1120Phe
ENST00000695689.1:c.304A>T	ENSP00000512101.1:n.304A>T
ENST00000695690.1:n.524A>T
ENST00000695691.1:n.524A>T
ENST00000245907.11:c.4333A>T MANE Select	ENSP00000245907.4:p.Ile1445Phe
ENST00000245907.10:c.4333A>T	ENSP00000245907.4:p.Ile1445Phe
ENST00000596548.1:c.454A>T	ENSP00000469744.1:p.Ile152Phe
ENST00000599899.5:n.1292A>T
ENST00000601008.1:c.242-4000A>T	ENSP00000471384.1:n.242-4000A>T
NM_000064.3:c.4333A>T	NP_000055.2:p.Ile1445Phe
NM_000064.4:c.4333A>T MANE Select	NP_000055.2:p.Ile1445Phe