Canonical Allele Identifier: CA403618238

Gene: C3

Linked Data

• MyVariant Identifiers: chr19:g.6685012A>T (hg19) ; chr19:g.6685001A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6685001A>T , CM000681.2:g.6685001A>T	GRCh38
NC_000019.9:g.6685012A>T , CM000681.1:g.6685012A>T	GRCh37
NC_000019.8:g.6636012A>T	NCBI36
NG_009557.1:g.40651T>A , LRG_27:g.40651T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2304T>A
ENST00000695653.1:c.1865T>A	ENSP00000512084.1:p.Leu622Gln
ENST00000695654.1:c.2981T>A	ENSP00000512085.1:p.Leu994Gln
ENST00000695690.1:n.147T>A
ENST00000695691.1:n.147T>A
ENST00000245907.11:c.3956T>A MANE Select	ENSP00000245907.4:p.Leu1319Gln
ENST00000245907.10:c.3956T>A	ENSP00000245907.4:p.Leu1319Gln
ENST00000596238.1:n.399T>A
ENST00000596548.1:c.38T>A	ENSP00000469744.1:p.Leu13Gln
ENST00000601008.1:c.241+1745T>A	ENSP00000471384.1:n.241+1745T>A
NM_000064.3:c.3956T>A	NP_000055.2:p.Leu1319Gln
NM_000064.4:c.3956T>A MANE Select	NP_000055.2:p.Leu1319Gln