Canonical Allele Identifier: CA395119626

Gene: COG7

Linked Data

• MyVariant Identifiers: chr16:g.23428339T>A (hg19) ; chr16:g.23417018T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23417018T>A , CM000678.2:g.23417018T>A	GRCh38
NC_000016.9:g.23428339T>A , CM000678.1:g.23428339T>A	GRCh37
NC_000016.8:g.23335840T>A	NCBI36
NG_021287.1:g.41174A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307149.10:c.1241A>T MANE Select	ENSP00000305442.5:p.Asn414Ile
ENST00000307149.9:c.1241A>T	ENSP00000305442.5:p.Asn414Ile
ENST00000567821.1:n.276A>T
NM_153603.3:c.1241A>T	NP_705831.1:p.Asn414Ile
XR_429680.1:n.1457A>T
XM_017023870.1:c.1046A>T	XP_016879359.1:p.Asn349Ile
XR_002957852.1:n.1462A>T
XR_429680.2:n.1462A>T
NM_153603.4:c.1241A>T MANE Select	NP_705831.1:p.Asn414Ile