Canonical Allele Identifier: CA1541430147
Community Standard Title: NM_000587.4(C7):c.1561C= (p.Arg521=)
Gene: C7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.40959520C= , CM000667.2:g.40959520C= GRCh38
NC_000005.9:g.40959622C= , CM000667.1:g.40959622C= GRCh37
NC_000005.8:g.40995379C= NCBI36
NG_011692.1:g.55024C= , LRG_30:g.55024C=

Transcript Alleles

HGVS Amino-acid Change
NM_000587.4:c.1561C= MANE Select NP_000578.2:p.Arg521=
ENST00000313164.10:c.1561C= MANE Select ENSP00000322061.9:p.Arg521=
NM_000587.2:c.1561C= , LRG_30t1:c.1561C= NP_000578.2:p.Arg521=
NM_000587.3:c.1561C= NP_000578.2:p.Arg521=
ENST00000313164.9:c.1561C= ENSP00000322061.9:p.Arg521=
ENST00000696333.1:c.1561C= ENSP00000512566.1:p.Arg521=
ENST00000696441.1:c.1561C= ENSP00000512631.1:p.Arg521=
ENST00000706664.1:n.1675C=
ENST00000706666.1:n.1637C=
ENST00000706667.1:n.2451C=
ENST00000706668.1:n.2289C=
XM_011514122.1:c.1561C= XP_011512424.1:p.Arg521=