Canonical Allele Identifier: CA403618635

Gene: C3

Linked Data

• MyVariant Identifiers: chr19:g.6685142A>T (hg19) ; chr19:g.6685131A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6685131A>T , CM000681.2:g.6685131A>T	GRCh38
NC_000019.9:g.6685142A>T , CM000681.1:g.6685142A>T	GRCh37
NC_000019.8:g.6636142A>T	NCBI36
NG_009557.1:g.40521T>A , LRG_27:g.40521T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000695651.1:n.2174T>A
ENST00000695653.1:c.1735T>A	ENSP00000512084.1:p.Phe579Ile
ENST00000695654.1:c.2851T>A	ENSP00000512085.1:p.Phe951Ile
ENST00000695690.1:n.17T>A
ENST00000695691.1:n.17T>A
ENST00000245907.11:c.3826T>A MANE Select	ENSP00000245907.4:p.Phe1276Ile
ENST00000245907.10:c.3826T>A	ENSP00000245907.4:p.Phe1276Ile
ENST00000596238.1:n.269T>A
ENST00000601008.1:c.241+1615T>A	ENSP00000471384.1:n.241+1615T>A
NM_000064.3:c.3826T>A	NP_000055.2:p.Phe1276Ile
NM_000064.4:c.3826T>A MANE Select	NP_000055.2:p.Phe1276Ile