Canonical Allele Identifier: CA16043881
Gene: COG7 HGNC NCBI

Linked Data

ClinVar Variation Id: 374753
ClinVar RCV Id: RCV000415987
dbSNP Id: rs1057519232

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23417092_23417093insA , CM000678.2:g.23417092_23417093insA GRCh38
NC_000016.9:g.23428413_23428414insA , CM000678.1:g.23428413_23428414insA GRCh37
NC_000016.8:g.23335914_23335915insA NCBI36
NG_021287.1:g.41099_41100insT

Transcript Alleles

HGVS Amino-acid change
ENST00000307149.9:c.1166_1167insT ENSP00000305442.5:p.Gln389HisfsTer19
NM_153603.3:c.1166_1167insT NP_705831.1:p.Gln389HisfsTer19
XM_017023870.1:c.971_972insT XP_016879359.1:p.Gln324HisfsTer19
NM_153603.4:c.1166_1167insT MANE Select NP_705831.1:p.Gln389HisfsTer19