Canonical Allele Identifier: CA403619341
Gene: C3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6686128G>T , CM000681.2:g.6686128G>T GRCh38
NC_000019.9:g.6686139G>T , CM000681.1:g.6686139G>T GRCh37
NC_000019.8:g.6637139G>T NCBI36
NG_009557.1:g.39524C>A , LRG_27:g.39524C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2154C>A
ENST00000695652.1:c.3683C>A ENSP00000512083.1:p.Thr1228Asn
ENST00000695653.1:c.1715C>A ENSP00000512084.1:p.Thr572Asn
ENST00000695654.1:c.2831C>A ENSP00000512085.1:p.Thr944Asn
ENST00000695655.1:c.2747C>A ENSP00000512086.1:n.2747C>A
ENST00000695692.1:n.3170C>A
ENST00000245907.11:c.3806C>A MANE Select ENSP00000245907.4:p.Thr1269Asn
ENST00000245907.10:c.3806C>A ENSP00000245907.4:p.Thr1269Asn
ENST00000596238.1:n.249C>A
ENST00000601008.1:c.241+618C>A ENSP00000471384.1:n.241+618C>A
NM_000064.3:c.3806C>A NP_000055.2:p.Thr1269Asn
NM_000064.4:c.3806C>A MANE Select NP_000055.2:p.Thr1269Asn