Canonical Allele Identifier: CA3249715

Gene: C7

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.40945289G>A , CM000667.2:g.40945289G>A	GRCh38
NC_000005.9:g.40945391G>A , CM000667.1:g.40945391G>A	GRCh37
NC_000005.8:g.40981148G>A	NCBI36
NG_011692.1:g.40793G>A , LRG_30:g.40793G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000587.4:c.659G>A MANE Select	NP_000578.2:p.Arg220Gln
ENST00000313164.10:c.659G>A MANE Select	ENSP00000322061.9:p.Arg220Gln
NM_000587.2:c.659G>A , LRG_30t1:c.659G>A	NP_000578.2:p.Arg220Gln
NM_000587.3:c.659G>A	NP_000578.2:p.Arg220Gln
ENST00000313164.9:c.659G>A	ENSP00000322061.9:p.Arg220Gln
ENST00000508185.5:n.523G>A
ENST00000696333.1:c.659G>A	ENSP00000512566.1:p.Arg220Gln
ENST00000696441.1:c.659G>A	ENSP00000512631.1:p.Arg220Gln
ENST00000706664.1:n.773G>A
ENST00000706666.1:n.735G>A
ENST00000706667.1:n.1549G>A
ENST00000706668.1:n.1387G>A
XM_011514122.1:c.659G>A	XP_011512424.1:p.Arg220Gln