Canonical Allele Identifier: CA3249546

Gene: C7

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.40934329G>A , CM000667.2:g.40934329G>A	GRCh38
NC_000005.9:g.40934431G>A , CM000667.1:g.40934431G>A	GRCh37
NC_000005.8:g.40970188G>A	NCBI36
NG_011692.1:g.29833G>A , LRG_30:g.29833G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000587.4:c.143G>A MANE Select	NP_000578.2:p.Arg48His
ENST00000313164.10:c.143G>A MANE Select	ENSP00000322061.9:p.Arg48His
NM_000587.2:c.143G>A , LRG_30t1:c.143G>A	NP_000578.2:p.Arg48His
NM_000587.3:c.143G>A	NP_000578.2:p.Arg48His
ENST00000313164.9:c.143G>A	ENSP00000322061.9:p.Arg48His
ENST00000489457.2:c.143G>A	ENSP00000512585.1:p.Arg48His
ENST00000508185.5:n.7G>A
ENST00000696333.1:c.143G>A	ENSP00000512566.1:p.Arg48His
ENST00000696441.1:c.143G>A	ENSP00000512631.1:p.Arg48His
ENST00000706664.1:n.257G>A
ENST00000706666.1:n.219G>A
ENST00000706667.1:n.891G>A
ENST00000706668.1:n.871G>A
XM_011514122.1:c.143G>A	XP_011512424.1:p.Arg48His