Canonical Allele Identifier: CA359591480
Gene: C7 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.40964866T>A , CM000667.2:g.40964866T>A GRCh38
NC_000005.9:g.40964968T>A , CM000667.1:g.40964968T>A GRCh37
NC_000005.8:g.41000725T>A NCBI36
NG_011692.1:g.60370T>A , LRG_30:g.60370T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000486779.2:n.667T>A
ENST00000696333.1:c.1875T>A ENSP00000512566.1:p.His625Gln
ENST00000696441.1:c.1875T>A ENSP00000512631.1:p.His625Gln
ENST00000706664.1:n.1989T>A
ENST00000706666.1:n.1951T>A
ENST00000706667.1:n.2765T>A
ENST00000706668.1:n.2603T>A
ENST00000313164.10:c.1875T>A MANE Select ENSP00000322061.9:p.His625Gln
ENST00000313164.9:c.1875T>A ENSP00000322061.9:p.His625Gln
ENST00000486779.1:n.388T>A
NM_000587.2:c.1875T>A , LRG_30t1:c.1875T>A NP_000578.2:p.His625Gln
XM_011514122.1:c.1875T>A XP_011512424.1:p.His625Gln
NM_000587.3:c.1875T>A NP_000578.2:p.His625Gln
NM_000587.4:c.1875T>A MANE Select NP_000578.2:p.His625Gln