Canonical Allele Identifier: CA395120285

Gene: COG7

Linked Data

• MyVariant Identifiers: chr16:g.23428439G>A (hg19) ; chr16:g.23417118G>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000307149.10:c.1141C>T MANE Select	ENSP00000305442.5:p.His381Tyr
ENST00000307149.9:c.1141C>T	ENSP00000305442.5:p.His381Tyr
ENST00000567821.1:n.176C>T
NM_153603.3:c.1141C>T	NP_705831.1:p.His381Tyr
XR_429680.1:n.1357C>T
XM_017023870.1:c.946C>T	XP_016879359.1:p.His316Tyr
XR_002957852.1:n.1362C>T
XR_429680.2:n.1362C>T
NM_153603.4:c.1141C>T MANE Select	NP_705831.1:p.His381Tyr