Canonical Allele Identifier: CA9128739
Community Standard Title: NM_000064.4(C3):c.3411C>T (p.Asn1137=)
Gene: C3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6690707G>A , CM000681.2:g.6690707G>A GRCh38
NC_000019.9:g.6690718G>A , CM000681.1:g.6690718G>A GRCh37
NC_000019.8:g.6641718G>A NCBI36
NG_009557.1:g.34945C>T , LRG_27:g.34945C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000064.4:c.3411C>T MANE Select NP_000055.2:p.Asn1137=
ENST00000245907.11:c.3411C>T MANE Select ENSP00000245907.4:p.Asn1137=
NM_000064.3:c.3411C>T NP_000055.2:p.Asn1137=
ENST00000245907.10:c.3411C>T ENSP00000245907.4:p.Asn1137=
ENST00000598805.2:n.181C>T
ENST00000601008.1:c.6C>T ENSP00000471384.1:p.Asn2=
ENST00000695651.1:n.1759C>T
ENST00000695652.1:c.3288C>T ENSP00000512083.1:p.Asn1096=
ENST00000695653.1:c.1320C>T ENSP00000512084.1:p.Asn440=
ENST00000695654.1:c.2514+2217C>T ENSP00000512085.1:n.2514+2217C>T
ENST00000695655.1:c.2352C>T ENSP00000512086.1:n.2352C>T
ENST00000695692.1:n.2775C>T