Canonical Allele Identifier: CA403612805
Gene: C3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6679462C>A , CM000681.2:g.6679462C>A GRCh38
NC_000019.9:g.6679473C>A , CM000681.1:g.6679473C>A GRCh37
NC_000019.8:g.6630473C>A NCBI36
NG_009557.1:g.46190G>T , LRG_27:g.46190G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2839G>T
ENST00000695653.1:c.2400G>T ENSP00000512084.1:p.Lys800Asn
ENST00000695654.1:c.3516G>T ENSP00000512085.1:p.Lys1172Asn
ENST00000695689.1:c.462G>T ENSP00000512101.1:n.462G>T
ENST00000695690.1:n.1556G>T
ENST00000695691.1:n.1352G>T
ENST00000245907.11:c.4491G>T MANE Select ENSP00000245907.4:p.Lys1497Asn
ENST00000245907.10:c.4491G>T ENSP00000245907.4:p.Lys1497Asn
ENST00000599668.1:n.86G>T
ENST00000599899.5:n.1450G>T
ENST00000601008.1:c.242-1504G>T ENSP00000471384.1:n.242-1504G>T
NM_000064.3:c.4491G>T NP_000055.2:p.Lys1497Asn
NM_000064.4:c.4491G>T MANE Select NP_000055.2:p.Lys1497Asn