Canonical Allele Identifier: CA7961315

Gene: COG7

Linked Data

• ClinVar Variation Id: 318486
• ClinVar RCV Id: RCV000514059 ; RCV001080981 ; RCV002520999
• dbSNP Id: rs149163316
• ExAC: 16:23456398 C / T
• gnomAD v2: 16-23456398-C-T
• gnomAD v3: 16-23445077-C-T
• gnomAD v4: 16-23445077-C-T
• MyVariant Identifiers: chr16:g.23456398C>T (hg19) ; chr16:g.23445077C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23445077C>T , CM000678.2:g.23445077C>T	GRCh38
NC_000016.9:g.23456398C>T , CM000678.1:g.23456398C>T	GRCh37
NC_000016.8:g.23363899C>T	NCBI36
NG_021287.1:g.13115G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307149.10:c.406G>A MANE Select	ENSP00000305442.5:p.Ala136Thr
ENST00000307149.9:c.406G>A	ENSP00000305442.5:p.Ala136Thr
NM_153603.3:c.406G>A	NP_705831.1:p.Ala136Thr
XR_429680.1:n.622G>A
XM_017023870.1:c.211G>A	XP_016879359.1:p.Ala71Thr
XR_002957852.1:n.627G>A
XR_429680.2:n.627G>A
NM_153603.4:c.406G>A MANE Select	NP_705831.1:p.Ala136Thr