Canonical Allele Identifier: CA494168697
Gene: COG7 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.23428422G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23417101G>A , CM000678.2:g.23417101G>A GRCh38
NC_000016.9:g.23428422G>A , CM000678.1:g.23428422G>A GRCh37
NC_000016.8:g.23335923G>A NCBI36
NG_021287.1:g.41091C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000307149.10:c.1158C>T MANE Select ENSP00000305442.5:p.Asp386=
ENST00000307149.9:c.1158C>T ENSP00000305442.5:p.Asp386=
ENST00000567821.1:n.193C>T
NM_153603.3:c.1158C>T NP_705831.1:p.Asp386=
XR_429680.1:n.1374C>T
XM_017023870.1:c.963C>T XP_016879359.1:p.Asp321=
XR_002957852.1:n.1379C>T
XR_429680.2:n.1379C>T
NM_153603.4:c.1158C>T MANE Select NP_705831.1:p.Asp386=