Canonical Allele Identifier: CA1541399151

Gene: C7

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.40979809T= , CM000667.2:g.40979809T=	GRCh38
NC_000005.9:g.40979911T= , CM000667.1:g.40979911T=	GRCh37
NC_000005.8:g.41015668T=	NCBI36
NG_011692.1:g.75313T= , LRG_30:g.75313T=

Transcript Alleles

HGVS	Amino-acid Change
NM_000587.4:c.2250T= MANE Select	NP_000578.2:p.Cys750=
ENST00000313164.10:c.2250T= MANE Select	ENSP00000322061.9:p.Cys750=
NM_000587.2:c.2250T= , LRG_30t1:c.2250T=	NP_000578.2:p.Cys750=
NM_000587.3:c.2250T=	NP_000578.2:p.Cys750=
ENST00000313164.9:c.2250T=	ENSP00000322061.9:p.Cys750=
ENST00000464864.1:n.263T=
ENST00000494960.5:n.250T=
ENST00000696333.1:c.2250T=	ENSP00000512566.1:p.Cys750=
ENST00000696441.1:c.2250T=	ENSP00000512631.1:p.Cys750=
ENST00000696442.1:n.184T=
ENST00000706664.1:n.2364T=
ENST00000706666.1:n.2241+2969T=
ENST00000706667.1:n.3140T=
ENST00000706668.1:n.2978T=
XM_011514122.1:c.2250T=	XP_011512424.1:p.Cys750=