Canonical Allele Identifier: CA395119605
Gene: COG7 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.23428328T>G (hg19) chr16:g.23417007T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23417007T>G , CM000678.2:g.23417007T>G GRCh38
NC_000016.9:g.23428328T>G , CM000678.1:g.23428328T>G GRCh37
NC_000016.8:g.23335829T>G NCBI36
NG_021287.1:g.41185A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000307149.10:c.1252A>C MANE Select ENSP00000305442.5:p.Thr418Pro
ENST00000307149.9:c.1252A>C ENSP00000305442.5:p.Thr418Pro
ENST00000567821.1:n.287A>C
NM_153603.3:c.1252A>C NP_705831.1:p.Thr418Pro
XR_429680.1:n.1468A>C
XM_017023870.1:c.1057A>C XP_016879359.1:p.Thr353Pro
XR_002957852.1:n.1473A>C
XR_429680.2:n.1473A>C
NM_153603.4:c.1252A>C MANE Select NP_705831.1:p.Thr418Pro
Search 100 bp 5'
Search 100 bp 3'