Canonical Allele Identifier: CA403615202
Gene: C3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6682145C>A , CM000681.2:g.6682145C>A GRCh38
NC_000019.9:g.6682156C>A , CM000681.1:g.6682156C>A GRCh37
NC_000019.8:g.6633156C>A NCBI36
NG_009557.1:g.43507G>T , LRG_27:g.43507G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2605G>T
ENST00000695653.1:c.2166G>T ENSP00000512084.1:p.Lys722Asn
ENST00000695654.1:c.3282G>T ENSP00000512085.1:p.Lys1094Asn
ENST00000695689.1:c.228G>T ENSP00000512101.1:n.228G>T
ENST00000695690.1:n.448G>T
ENST00000695691.1:n.448G>T
ENST00000245907.11:c.4257G>T MANE Select ENSP00000245907.4:p.Lys1419Asn
ENST00000245907.10:c.4257G>T ENSP00000245907.4:p.Lys1419Asn
ENST00000596548.1:c.378G>T ENSP00000469744.1:p.Lys126Asn
ENST00000599899.5:n.1216G>T
ENST00000601008.1:c.242-4187G>T ENSP00000471384.1:n.242-4187G>T
NM_000064.3:c.4257G>T NP_000055.2:p.Lys1419Asn
NM_000064.4:c.4257G>T MANE Select NP_000055.2:p.Lys1419Asn