Canonical Allele Identifier: CA403618674

Gene: C3

Linked Data

• MyVariant Identifiers: chr19:g.6685151A>T (hg19) ; chr19:g.6685140A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6685140A>T , CM000681.2:g.6685140A>T	GRCh38
NC_000019.9:g.6685151A>T , CM000681.1:g.6685151A>T	GRCh37
NC_000019.8:g.6636151A>T	NCBI36
NG_009557.1:g.40512T>A , LRG_27:g.40512T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2165T>A
ENST00000695653.1:c.1726T>A	ENSP00000512084.1:p.Phe576Ile
ENST00000695654.1:c.2842T>A	ENSP00000512085.1:p.Phe948Ile
ENST00000695690.1:n.8T>A
ENST00000695691.1:n.8T>A
ENST00000245907.11:c.3817T>A MANE Select	ENSP00000245907.4:p.Phe1273Ile
ENST00000245907.10:c.3817T>A	ENSP00000245907.4:p.Phe1273Ile
ENST00000596238.1:n.260T>A
ENST00000601008.1:c.241+1606T>A	ENSP00000471384.1:n.241+1606T>A
NM_000064.3:c.3817T>A	NP_000055.2:p.Phe1273Ile
NM_000064.4:c.3817T>A MANE Select	NP_000055.2:p.Phe1273Ile