Canonical Allele Identifier: CA403618175
Gene: C3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6684989T>A , CM000681.2:g.6684989T>A GRCh38
NC_000019.9:g.6685000T>A , CM000681.1:g.6685000T>A GRCh37
NC_000019.8:g.6636000T>A NCBI36
NG_009557.1:g.40663A>T , LRG_27:g.40663A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2316A>T
ENST00000695653.1:c.1877A>T ENSP00000512084.1:p.Glu626Val
ENST00000695654.1:c.2993A>T ENSP00000512085.1:p.Glu998Val
ENST00000695690.1:n.159A>T
ENST00000695691.1:n.159A>T
ENST00000245907.11:c.3968A>T MANE Select ENSP00000245907.4:p.Glu1323Val
ENST00000245907.10:c.3968A>T ENSP00000245907.4:p.Glu1323Val
ENST00000596238.1:n.411A>T
ENST00000596548.1:c.50A>T ENSP00000469744.1:p.Glu17Val
ENST00000601008.1:c.241+1757A>T ENSP00000471384.1:n.241+1757A>T
NM_000064.3:c.3968A>T NP_000055.2:p.Glu1323Val
NM_000064.4:c.3968A>T MANE Select NP_000055.2:p.Glu1323Val