Canonical Allele Identifier: CA395120265
Gene: COG7 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.23428429A>G (hg19) chr16:g.23417108A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23417108A>G , CM000678.2:g.23417108A>G GRCh38
NC_000016.9:g.23428429A>G , CM000678.1:g.23428429A>G GRCh37
NC_000016.8:g.23335930A>G NCBI36
NG_021287.1:g.41084T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000307149.10:c.1151T>C MANE Select ENSP00000305442.5:p.Val384Ala
ENST00000307149.9:c.1151T>C ENSP00000305442.5:p.Val384Ala
ENST00000567821.1:n.186T>C
NM_153603.3:c.1151T>C NP_705831.1:p.Val384Ala
XR_429680.1:n.1367T>C
XM_017023870.1:c.956T>C XP_016879359.1:p.Val319Ala
XR_002957852.1:n.1372T>C
XR_429680.2:n.1372T>C
NM_153603.4:c.1151T>C MANE Select NP_705831.1:p.Val384Ala
Search 100 bp 5'
Search 100 bp 3'