Canonical Allele Identifier: CA395119610
Gene: COG7 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.23428331C>A (hg19) chr16:g.23417010C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23417010C>A , CM000678.2:g.23417010C>A GRCh38
NC_000016.9:g.23428331C>A , CM000678.1:g.23428331C>A GRCh37
NC_000016.8:g.23335832C>A NCBI36
NG_021287.1:g.41182G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000307149.10:c.1249G>T MANE Select ENSP00000305442.5:p.Gly417Trp
ENST00000307149.9:c.1249G>T ENSP00000305442.5:p.Gly417Trp
ENST00000567821.1:n.284G>T
NM_153603.3:c.1249G>T NP_705831.1:p.Gly417Trp
XR_429680.1:n.1465G>T
XM_017023870.1:c.1054G>T XP_016879359.1:p.Gly352Trp
XR_002957852.1:n.1470G>T
XR_429680.2:n.1470G>T
NM_153603.4:c.1249G>T MANE Select NP_705831.1:p.Gly417Trp
Search 100 bp 5'
Search 100 bp 3'