Canonical Allele Identifier: CA359590828
Gene: C7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.40937550A>T , CM000667.2:g.40937550A>T GRCh38
NC_000005.9:g.40937652A>T , CM000667.1:g.40937652A>T GRCh37
NC_000005.8:g.40973409A>T NCBI36
NG_011692.1:g.33054A>T , LRG_30:g.33054A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000696333.1:c.429-2A>T ENSP00000512566.1:n.429-2A>T
ENST00000696441.1:c.429-2A>T ENSP00000512631.1:n.429-2A>T
ENST00000706664.1:n.543-2A>T
ENST00000706666.1:n.505-2A>T
ENST00000706667.1:n.1319-2A>T
ENST00000706668.1:n.1157-2A>T
ENST00000313164.10:c.429-2A>T MANE Select ENSP00000322061.9:n.429-2A>T
ENST00000313164.9:c.429-2A>T ENSP00000322061.9:n.429-2A>T
ENST00000508185.5:n.293-2A>T
NM_000587.2:c.429-2A>T , LRG_30t1:c.429-2A>T NP_000578.2:n.429-2A>T
XM_011514122.1:c.429-2A>T XP_011512424.1:n.429-2A>T
NM_000587.3:c.429-2A>T NP_000578.2:n.429-2A>T
NM_000587.4:c.429-2A>T MANE Select NP_000578.2:n.429-2A>T