Canonical Allele Identifier: CA1541437604

Gene: C7

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.40964756T= , CM000667.2:g.40964756T=	GRCh38
NC_000005.9:g.40964858T= , CM000667.1:g.40964858T=	GRCh37
NC_000005.8:g.41000615T=	NCBI36
NG_011692.1:g.60260T= , LRG_30:g.60260T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486779.2:n.557T=
ENST00000696333.1:c.1765T=	ENSP00000512566.1:p.Phe589=
ENST00000696441.1:c.1765T=	ENSP00000512631.1:p.Phe589=
ENST00000706664.1:n.1879T=
ENST00000706666.1:n.1841T=
ENST00000706667.1:n.2655T=
ENST00000706668.1:n.2493T=
ENST00000313164.10:c.1765T= MANE Select	ENSP00000322061.9:p.Phe589=
ENST00000313164.9:c.1765T=	ENSP00000322061.9:p.Phe589=
ENST00000486779.1:n.278T=
NM_000587.2:c.1765T= , LRG_30t1:c.1765T=	NP_000578.2:p.Phe589=
XM_011514122.1:c.1765T=	XP_011512424.1:p.Phe589=
NM_000587.3:c.1765T=	NP_000578.2:p.Phe589=
NM_000587.4:c.1765T= MANE Select	NP_000578.2:p.Phe589=