Canonical Allele Identifier: CA403614886
Gene: C3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6681998C>A , CM000681.2:g.6681998C>A GRCh38
NC_000019.9:g.6682009C>A , CM000681.1:g.6682009C>A GRCh37
NC_000019.8:g.6633009C>A NCBI36
NG_009557.1:g.43654G>T , LRG_27:g.43654G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2641G>T
ENST00000695653.1:c.2202G>T ENSP00000512084.1:p.Lys734Asn
ENST00000695654.1:c.3318G>T ENSP00000512085.1:p.Lys1106Asn
ENST00000695689.1:c.264G>T ENSP00000512101.1:n.264G>T
ENST00000695690.1:n.484G>T
ENST00000695691.1:n.484G>T
ENST00000245907.11:c.4293G>T MANE Select ENSP00000245907.4:p.Lys1431Asn
ENST00000245907.10:c.4293G>T ENSP00000245907.4:p.Lys1431Asn
ENST00000596548.1:c.414G>T ENSP00000469744.1:p.Lys138Asn
ENST00000599899.5:n.1252G>T
ENST00000601008.1:c.242-4040G>T ENSP00000471384.1:n.242-4040G>T
NM_000064.3:c.4293G>T NP_000055.2:p.Lys1431Asn
NM_000064.4:c.4293G>T MANE Select NP_000055.2:p.Lys1431Asn