Canonical Allele Identifier: CA8133940

Gene: COG8

Linked Data

• ClinVar Variation Id: 389403
• ClinVar RCV Id: RCV000435352 ; RCV001450151
• dbSNP Id: rs375227294
• ExAC: 16:69370471 G / A
• gnomAD v2: 16-69370471-G-A
• gnomAD v3: 16-69336568-G-A
• gnomAD v4: 16-69336568-G-A
• MyVariant Identifiers: chr16:g.69370471G>A (hg19) ; chr16:g.69336568G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.69336568G>A , CM000678.2:g.69336568G>A	GRCh38
NC_000016.9:g.69370471G>A , CM000678.1:g.69370471G>A	GRCh37
NC_000016.8:g.67927972G>A	NCBI36
NG_009013.1:g.8056C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000306875.10:c.522C>T MANE Select	ENSP00000305459.6:p.Ala174=
ENST00000306875.8:c.522C>T	ENSP00000305459.4:p.Ala174=
ENST00000562081.2:c.522C>T	ENSP00000455954.1:p.Ala174=
ENST00000562595.5:c.463C>T
ENST00000563634.1:c.147C>T	ENSP00000454500.1:p.Ala49=
ENST00000564737.1:c.611C>T
ENST00000567493.1:c.102C>T	ENSP00000464395.1:p.Ala34=
ENST00000570293.5:c.461C>T	ENSP00000464417.1:n.461C>T
NM_032382.4:c.522C>T	NP_115758.3:p.Ala174=
NM_001374871.1:c.522C>T	NP_001361800.1:p.Ala174=
NM_032382.5:c.522C>T MANE Select	NP_115758.3:p.Ala174=
NM_001379261.1:c.522C>T	NP_001366190.1:p.Ala174=
NM_001379262.1:c.522C>T	NP_001366191.1:p.Ala174=
NM_001379263.1:c.522C>T	NP_001366192.1:p.Ala174=
NM_001379264.1:c.522C>T	NP_001366193.1:p.Ala174=
NM_001379265.1:c.522C>T	NP_001366194.1:p.Ala174=
NM_001379266.1:c.522C>T	NP_001366195.1:p.Ala174=