Canonical Allele Identifier: CA395120272
Gene: COG7 HGNC NCBI

Linked Data

gnomAD v4: 16-23417111-T-G
MyVariant Identifiers: chr16:g.23428432T>G (hg19) chr16:g.23417111T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23417111T>G , CM000678.2:g.23417111T>G GRCh38
NC_000016.9:g.23428432T>G , CM000678.1:g.23428432T>G GRCh37
NC_000016.8:g.23335933T>G NCBI36
NG_021287.1:g.41081A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000307149.10:c.1148A>C MANE Select ENSP00000305442.5:p.Glu383Ala
ENST00000307149.9:c.1148A>C ENSP00000305442.5:p.Glu383Ala
ENST00000567821.1:n.183A>C
NM_153603.3:c.1148A>C NP_705831.1:p.Glu383Ala
XR_429680.1:n.1364A>C
XM_017023870.1:c.953A>C XP_016879359.1:p.Glu318Ala
XR_002957852.1:n.1369A>C
XR_429680.2:n.1369A>C
NM_153603.4:c.1148A>C MANE Select NP_705831.1:p.Glu383Ala
Search 100 bp 5'
Search 100 bp 3'