Canonical Allele Identifier: CA3249634

Gene: C7

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.40936494C>T , CM000667.2:g.40936494C>T	GRCh38
NC_000005.9:g.40936596C>T , CM000667.1:g.40936596C>T	GRCh37
NC_000005.8:g.40972353C>T	NCBI36
NG_011692.1:g.31998C>T , LRG_30:g.31998C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000489457.2:c.428+9C>T	ENSP00000512585.1:n.428+9C>T
ENST00000696333.1:c.428+9C>T	ENSP00000512566.1:n.428+9C>T
ENST00000696441.1:c.428+9C>T	ENSP00000512631.1:n.428+9C>T
ENST00000706664.1:n.542+9C>T
ENST00000706666.1:n.504+9C>T
ENST00000706667.1:n.1176+9C>T
ENST00000706668.1:n.1156+9C>T
ENST00000313164.10:c.428+9C>T MANE Select	ENSP00000322061.9:n.428+9C>T
ENST00000313164.9:c.428+9C>T	ENSP00000322061.9:n.428+9C>T
ENST00000489457.1:n.148+9C>T
ENST00000508185.5:n.292+9C>T
NM_000587.2:c.428+9C>T , LRG_30t1:c.428+9C>T	NP_000578.2:n.428+9C>T
XM_011514122.1:c.428+9C>T	XP_011512424.1:n.428+9C>T
NM_000587.3:c.428+9C>T	NP_000578.2:n.428+9C>T
NM_000587.4:c.428+9C>T MANE Select	NP_000578.2:n.428+9C>T