Canonical Allele Identifier: CA403619884
Gene: C3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6686231A>T , CM000681.2:g.6686231A>T GRCh38
NC_000019.9:g.6686242A>T , CM000681.1:g.6686242A>T GRCh37
NC_000019.8:g.6637242A>T NCBI36
NG_009557.1:g.39421T>A , LRG_27:g.39421T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2051T>A
ENST00000695652.1:c.3580T>A ENSP00000512083.1:p.Tyr1194Asn
ENST00000695653.1:c.1612T>A ENSP00000512084.1:p.Tyr538Asn
ENST00000695654.1:c.2728T>A ENSP00000512085.1:p.Tyr910Asn
ENST00000695655.1:c.2644T>A ENSP00000512086.1:n.2644T>A
ENST00000695692.1:n.3067T>A
ENST00000245907.11:c.3703T>A MANE Select ENSP00000245907.4:p.Tyr1235Asn
ENST00000245907.10:c.3703T>A ENSP00000245907.4:p.Tyr1235Asn
ENST00000596238.1:n.146T>A
ENST00000601008.1:c.241+515T>A ENSP00000471384.1:n.241+515T>A
NM_000064.3:c.3703T>A NP_000055.2:p.Tyr1235Asn
NM_000064.4:c.3703T>A MANE Select NP_000055.2:p.Tyr1235Asn