Canonical Allele Identifier: CA395120287
Gene: COG7 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.23428439G>T (hg19) chr16:g.23417118G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23417118G>T , CM000678.2:g.23417118G>T GRCh38
NC_000016.9:g.23428439G>T , CM000678.1:g.23428439G>T GRCh37
NC_000016.8:g.23335940G>T NCBI36
NG_021287.1:g.41074C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000307149.10:c.1141C>A MANE Select ENSP00000305442.5:p.His381Asn
ENST00000307149.9:c.1141C>A ENSP00000305442.5:p.His381Asn
ENST00000567821.1:n.176C>A
NM_153603.3:c.1141C>A NP_705831.1:p.His381Asn
XR_429680.1:n.1357C>A
XM_017023870.1:c.946C>A XP_016879359.1:p.His316Asn
XR_002957852.1:n.1362C>A
XR_429680.2:n.1362C>A
NM_153603.4:c.1141C>A MANE Select NP_705831.1:p.His381Asn
Search 100 bp 5'
Search 100 bp 3'