Canonical Allele Identifier: CA395119621
Gene: COG7 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.23428337C>A (hg19) chr16:g.23417016C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23417016C>A , CM000678.2:g.23417016C>A GRCh38
NC_000016.9:g.23428337C>A , CM000678.1:g.23428337C>A GRCh37
NC_000016.8:g.23335838C>A NCBI36
NG_021287.1:g.41176G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000307149.10:c.1243G>T MANE Select ENSP00000305442.5:p.Gly415Cys
ENST00000307149.9:c.1243G>T ENSP00000305442.5:p.Gly415Cys
ENST00000567821.1:n.278G>T
NM_153603.3:c.1243G>T NP_705831.1:p.Gly415Cys
XR_429680.1:n.1459G>T
XM_017023870.1:c.1048G>T XP_016879359.1:p.Gly350Cys
XR_002957852.1:n.1464G>T
XR_429680.2:n.1464G>T
NM_153603.4:c.1243G>T MANE Select NP_705831.1:p.Gly415Cys
Search 100 bp 5'
Search 100 bp 3'