Canonical Allele Identifier: CA658653833
Gene: COG7 HGNC NCBI

Linked Data

ClinVar Variation Id: 3651
ClinVar RCV Id: RCV000003836 RCV001090341
dbSNP Id: rs1555496968
gnomAD v4: 16-23445968-T-C
MyVariant Identifiers: chr16:g.23457289T>C (hg19) chr16:g.23445968T>C (hg38)
PubMed: PMID:19577670
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23445968T>C , CM000678.2:g.23445968T>C GRCh38
NC_000016.9:g.23457289T>C , CM000678.1:g.23457289T>C GRCh37
NC_000016.8:g.23364790T>C NCBI36
NG_021287.1:g.12224A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000307149.10:c.170-7A>G MANE Select ENSP00000305442.5:n.170-7A>G
ENST00000307149.9:c.170-7A>G ENSP00000305442.5:n.170-7A>G
NM_153603.3:c.170-7A>G NP_705831.1:n.170-7A>G
XR_429680.1:n.386-7A>G
XM_017023870.1:c.-26-7A>G XP_016879359.1:n.-26-7A>G
XR_002957852.1:n.391-7A>G
XR_429680.2:n.391-7A>G
NM_153603.4:c.170-7A>G MANE Select NP_705831.1:n.170-7A>G
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