Canonical Allele Identifier: CA395120280
Gene: COG7 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23417115C>T , CM000678.2:g.23417115C>T GRCh38
NC_000016.9:g.23428436C>T , CM000678.1:g.23428436C>T GRCh37
NC_000016.8:g.23335937C>T NCBI36
NG_021287.1:g.41077G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000307149.10:c.1144G>A MANE Select ENSP00000305442.5:p.Gly382Arg
ENST00000307149.9:c.1144G>A ENSP00000305442.5:p.Gly382Arg
ENST00000567821.1:n.179G>A
NM_153603.3:c.1144G>A NP_705831.1:p.Gly382Arg
XR_429680.1:n.1360G>A
XM_017023870.1:c.949G>A XP_016879359.1:p.Gly317Arg
XR_002957852.1:n.1365G>A
XR_429680.2:n.1365G>A
NM_153603.4:c.1144G>A MANE Select NP_705831.1:p.Gly382Arg