Canonical Allele Identifier: CA7960800

Gene: COG7

Linked Data

• ClinVar Variation Id: 318463
• ClinVar RCV Id: RCV000419953 ; RCV000871112 ; RCV001531847
• dbSNP Id: rs142744907
• ExAC: 16:23403795 C / T
• gnomAD v2: 16-23403795-C-T
• gnomAD v3: 16-23392474-C-T
• gnomAD v4: 16-23392474-C-T
• MyVariant Identifiers: chr16:g.23403795C>T (hg19) ; chr16:g.23392474C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23392474C>T , CM000678.2:g.23392474C>T	GRCh38
NC_000016.9:g.23403795C>T , CM000678.1:g.23403795C>T	GRCh37
NC_000016.8:g.23311296C>T	NCBI36
NG_021287.1:g.65718G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307149.10:c.2052G>A MANE Select	ENSP00000305442.5:p.Ser684=
ENST00000307149.9:c.2052G>A	ENSP00000305442.5:p.Ser684=
ENST00000561854.1:c.136G>A
ENST00000563164.1:c.110G>A
ENST00000566364.1:n.399G>A
ENST00000569635.1:n.60-2190G>A
NM_153603.3:c.2052G>A	NP_705831.1:p.Ser684=
XR_429680.1:n.2268G>A
XM_017023870.1:c.1857G>A	XP_016879359.1:p.Ser619=
XR_002957852.1:n.2273G>A
XR_429680.2:n.2273G>A
NM_153603.4:c.2052G>A MANE Select	NP_705831.1:p.Ser684=