Canonical Allele Identifier: CA1541437576
Gene: C7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.40964751C= , CM000667.2:g.40964751C= GRCh38
NC_000005.9:g.40964853C= , CM000667.1:g.40964853C= GRCh37
NC_000005.8:g.41000610C= NCBI36
NG_011692.1:g.60255C= , LRG_30:g.60255C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000486779.2:n.552C=
ENST00000696333.1:c.1760C= ENSP00000512566.1:p.Thr587=
ENST00000696441.1:c.1760C= ENSP00000512631.1:p.Thr587=
ENST00000706664.1:n.1874C=
ENST00000706666.1:n.1836C=
ENST00000706667.1:n.2650C=
ENST00000706668.1:n.2488C=
ENST00000313164.10:c.1760C= MANE Select ENSP00000322061.9:p.Thr587=
ENST00000313164.9:c.1760C= ENSP00000322061.9:p.Thr587=
ENST00000486779.1:n.273C=
NM_000587.2:c.1760C= , LRG_30t1:c.1760C= NP_000578.2:p.Thr587=
XM_011514122.1:c.1760C= XP_011512424.1:p.Thr587=
NM_000587.3:c.1760C= NP_000578.2:p.Thr587=
NM_000587.4:c.1760C= MANE Select NP_000578.2:p.Thr587=