Canonical Allele Identifier: CA1541437664

Gene: C7

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.40964777G= , CM000667.2:g.40964777G=	GRCh38
NC_000005.9:g.40964879G= , CM000667.1:g.40964879G=	GRCh37
NC_000005.8:g.41000636G=	NCBI36
NG_011692.1:g.60281G= , LRG_30:g.60281G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486779.2:n.578G=
ENST00000696333.1:c.1786G=	ENSP00000512566.1:p.Val596=
ENST00000696441.1:c.1786G=	ENSP00000512631.1:p.Val596=
ENST00000706664.1:n.1900G=
ENST00000706666.1:n.1862G=
ENST00000706667.1:n.2676G=
ENST00000706668.1:n.2514G=
ENST00000313164.10:c.1786G= MANE Select	ENSP00000322061.9:p.Val596=
ENST00000313164.9:c.1786G=	ENSP00000322061.9:p.Val596=
ENST00000486779.1:n.299G=
NM_000587.2:c.1786G= , LRG_30t1:c.1786G=	NP_000578.2:p.Val596=
XM_011514122.1:c.1786G=	XP_011512424.1:p.Val596=
NM_000587.3:c.1786G=	NP_000578.2:p.Val596=
NM_000587.4:c.1786G= MANE Select	NP_000578.2:p.Val596=