Canonical Allele Identifier: CA494168700
Gene: COG7 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.23428425A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23417104A>T , CM000678.2:g.23417104A>T GRCh38
NC_000016.9:g.23428425A>T , CM000678.1:g.23428425A>T GRCh37
NC_000016.8:g.23335926A>T NCBI36
NG_021287.1:g.41088T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000307149.10:c.1155T>A MANE Select ENSP00000305442.5:p.Ile385=
ENST00000307149.9:c.1155T>A ENSP00000305442.5:p.Ile385=
ENST00000567821.1:n.190T>A
NM_153603.3:c.1155T>A NP_705831.1:p.Ile385=
XR_429680.1:n.1371T>A
XM_017023870.1:c.960T>A XP_016879359.1:p.Ile320=
XR_002957852.1:n.1376T>A
XR_429680.2:n.1376T>A
NM_153603.4:c.1155T>A MANE Select NP_705831.1:p.Ile385=