Canonical Allele Identifier: CA7960900
Gene: COG7 HGNC NCBI

Linked Data

ClinVar Variation Id: 318469
ClinVar RCV Id: RCV000985121
dbSNP Id: rs548129734
ExAC: 16:23415101 G / A
gnomAD v2: 16-23415101-G-A
gnomAD v3: 16-23403780-G-A
gnomAD v4: 16-23403780-G-A
MyVariant Identifiers: chr16:g.23415101G>A (hg19) chr16:g.23403780G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23403780G>A , CM000678.2:g.23403780G>A GRCh38
NC_000016.9:g.23415101G>A , CM000678.1:g.23415101G>A GRCh37
NC_000016.8:g.23322602G>A NCBI36
NG_021287.1:g.54412C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000307149.10:c.1717C>T MANE Select ENSP00000305442.5:p.Arg573Trp
ENST00000307149.9:c.1717C>T ENSP00000305442.5:p.Arg573Trp
ENST00000567821.1:n.752C>T
NM_153603.3:c.1717C>T NP_705831.1:p.Arg573Trp
XR_429680.1:n.1933C>T
XM_017023870.1:c.1522C>T XP_016879359.1:p.Arg508Trp
XR_002957852.1:n.1938C>T
XR_429680.2:n.1938C>T
NM_153603.4:c.1717C>T MANE Select NP_705831.1:p.Arg573Trp
Search 100 bp 5'
Search 100 bp 3'