Canonical Allele Identifier: CA494168556

Gene: COG7

Linked Data

• MyVariant Identifiers: chr16:g.23428335G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23417014G>T , CM000678.2:g.23417014G>T	GRCh38
NC_000016.9:g.23428335G>T , CM000678.1:g.23428335G>T	GRCh37
NC_000016.8:g.23335836G>T	NCBI36
NG_021287.1:g.41178C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307149.10:c.1245C>A MANE Select	ENSP00000305442.5:p.Gly415=
ENST00000307149.9:c.1245C>A	ENSP00000305442.5:p.Gly415=
ENST00000567821.1:n.280C>A
NM_153603.3:c.1245C>A	NP_705831.1:p.Gly415=
XR_429680.1:n.1461C>A
XM_017023870.1:c.1050C>A	XP_016879359.1:p.Gly350=
XR_002957852.1:n.1466C>A
XR_429680.2:n.1466C>A
NM_153603.4:c.1245C>A MANE Select	NP_705831.1:p.Gly415=