Canonical Allele Identifier: CA403610700
Community Standard Title: NM_000064.4(C3):c.4870A>T (p.Lys1624Ter)
Gene: C3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6678004T>A , CM000681.2:g.6678004T>A GRCh38
NC_000019.9:g.6678015T>A , CM000681.1:g.6678015T>A GRCh37
NC_000019.8:g.6629015T>A NCBI36
NG_009557.1:g.47648A>T , LRG_27:g.47648A>T

Transcript Alleles

HGVS Amino-acid Change
NM_000064.4:c.4870A>T MANE Select NP_000055.2:p.Lys1624Ter
ENST00000245907.11:c.4870A>T MANE Select ENSP00000245907.4:p.Lys1624Ter
NM_000064.3:c.4870A>T NP_000055.2:p.Lys1624Ter
ENST00000245907.10:c.4870A>T ENSP00000245907.4:p.Lys1624Ter
ENST00000599668.1:n.490A>T
ENST00000599899.5:n.1829A>T
ENST00000601008.1:c.242-46A>T ENSP00000471384.1:n.242-46A>T
ENST00000601475.1:n.199A>T
ENST00000602229.1:c.445A>T
ENST00000695651.1:n.3218A>T
ENST00000695653.1:c.2779A>T ENSP00000512084.1:p.Lys927Ter
ENST00000695654.1:c.3895A>T ENSP00000512085.1:p.Lys1299Ter
ENST00000695689.1:c.841A>T ENSP00000512101.1:n.841A>T
ENST00000695690.1:n.1935A>T
ENST00000695691.1:n.1731A>T