Canonical Allele Identifier: CA494168707

Gene: COG7

Linked Data

• MyVariant Identifiers: chr16:g.23428434C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23417113C>A , CM000678.2:g.23417113C>A	GRCh38
NC_000016.9:g.23428434C>A , CM000678.1:g.23428434C>A	GRCh37
NC_000016.8:g.23335935C>A	NCBI36
NG_021287.1:g.41079G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000307149.10:c.1146G>T MANE Select	ENSP00000305442.5:p.Gly382=
ENST00000307149.9:c.1146G>T	ENSP00000305442.5:p.Gly382=
ENST00000567821.1:n.181G>T
NM_153603.3:c.1146G>T	NP_705831.1:p.Gly382=
XR_429680.1:n.1362G>T
XM_017023870.1:c.951G>T	XP_016879359.1:p.Gly317=
XR_002957852.1:n.1367G>T
XR_429680.2:n.1367G>T
NM_153603.4:c.1146G>T MANE Select	NP_705831.1:p.Gly382=