Canonical Allele Identifier: CA2213320564

Gene: COG7

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23417013G= , CM000678.2:g.23417013G=	GRCh38
NC_000016.9:g.23428334G= , CM000678.1:g.23428334G=	GRCh37
NC_000016.8:g.23335835G=	NCBI36
NG_021287.1:g.41179C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307149.10:c.1246C= MANE Select	ENSP00000305442.5:p.Leu416=
ENST00000307149.9:c.1246C=	ENSP00000305442.5:p.Leu416=
ENST00000567821.1:n.281C=
NM_153603.3:c.1246C=	NP_705831.1:p.Leu416=
XR_429680.1:n.1462C=
XM_017023870.1:c.1051C=	XP_016879359.1:p.Leu351=
XR_002957852.1:n.1467C=
XR_429680.2:n.1467C=
NM_153603.4:c.1246C= MANE Select	NP_705831.1:p.Leu416=