Canonical Allele Identifier: CA7961065
Gene: COG7 HGNC NCBI

Linked Data

dbSNP Id: rs138636705
ExAC: 16:23428438 T / C
gnomAD v4: 16-23417117-T-C
MyVariant Identifiers: chr16:g.23428438T>C (hg19) chr16:g.23417117T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23417117T>C , CM000678.2:g.23417117T>C GRCh38
NC_000016.9:g.23428438T>C , CM000678.1:g.23428438T>C GRCh37
NC_000016.8:g.23335939T>C NCBI36
NG_021287.1:g.41075A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000307149.10:c.1142A>G MANE Select ENSP00000305442.5:p.His381Arg
ENST00000307149.9:c.1142A>G ENSP00000305442.5:p.His381Arg
ENST00000567821.1:n.177A>G
NM_153603.3:c.1142A>G NP_705831.1:p.His381Arg
XR_429680.1:n.1358A>G
XM_017023870.1:c.947A>G XP_016879359.1:p.His316Arg
XR_002957852.1:n.1363A>G
XR_429680.2:n.1363A>G
NM_153603.4:c.1142A>G MANE Select NP_705831.1:p.His381Arg
Search 100 bp 5'
Search 100 bp 3'