Canonical Allele Identifier: CA8134082

Gene: COG8 NIP7

Linked Data

• ClinVar Variation Id: 382281
• ClinVar RCV Id: RCV000424283
• dbSNP Id: rs751302354
• ExAC: 16:69373441 C / T
• gnomAD v2: 16-69373441-C-T
• gnomAD v3: 16-69339538-C-T
• gnomAD v4: 16-69339538-C-T
• MyVariant Identifiers: chr16:g.69373441C>T (hg19) ; chr16:g.69339538C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.69339538C>T , CM000678.2:g.69339538C>T	GRCh38
NC_000016.9:g.69373441C>T , CM000678.1:g.69373441C>T	GRCh37
NC_000016.8:g.67930942C>T	NCBI36
NG_009013.1:g.5086G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000306875.10:c.15G>A (COG8) MANE Select	ENSP00000305459.6:p.Ala5=
ENST00000563364.3:n.1543C>T (NIP7)
ENST00000254940.9:c.-292C>T (NIP7)	ENSP00000254940.5:n.-292C>T
ENST00000306875.8:c.15G>A (COG8)	ENSP00000305459.4:p.Ala5=
ENST00000562081.2:c.15G>A (COG8)	ENSP00000455954.1:p.Ala5=
ENST00000563634.1:c.3-2826G>A	ENSP00000454500.1:n.3-2826G>A
ENST00000564737.1:c.467-2826G>A
ENST00000570293.5:c.317-2826G>A	ENSP00000464417.1:n.317-2826G>A
NM_001199434.1:c.-292C>T (NIP7)	NP_001186363.1:n.-292C>T
NM_016101.4:c.-292C>T (NIP7)	NP_057185.1:n.-292C>T
NM_032382.4:c.15G>A (COG8)	NP_115758.3:p.Ala5=
NM_001374871.1:c.15G>A (COG8)	NP_001361800.1:p.Ala5=
NM_032382.5:c.15G>A (COG8) MANE Select	NP_115758.3:p.Ala5=
NM_001379261.1:c.15G>A (COG8)	NP_001366190.1:p.Ala5=
NM_001379262.1:c.15G>A (COG8)	NP_001366191.1:p.Ala5=
NM_001379263.1:c.15G>A (COG8)	NP_001366192.1:p.Ala5=
NM_001379264.1:c.15G>A (COG8)	NP_001366193.1:p.Ala5=
NM_001379265.1:c.15G>A (COG8)	NP_001366194.1:p.Ala5=
NM_001379266.1:c.15G>A (COG8)	NP_001366195.1:p.Ala5=