Canonical Allele Identifier: CA395119630
Gene: COG7 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23417019T>C , CM000678.2:g.23417019T>C GRCh38
NC_000016.9:g.23428340T>C , CM000678.1:g.23428340T>C GRCh37
NC_000016.8:g.23335841T>C NCBI36
NG_021287.1:g.41173A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000307149.10:c.1240A>G MANE Select ENSP00000305442.5:p.Asn414Asp
ENST00000307149.9:c.1240A>G ENSP00000305442.5:p.Asn414Asp
ENST00000567821.1:n.275A>G
NM_153603.3:c.1240A>G NP_705831.1:p.Asn414Asp
XR_429680.1:n.1456A>G
XM_017023870.1:c.1045A>G XP_016879359.1:p.Asn349Asp
XR_002957852.1:n.1461A>G
XR_429680.2:n.1461A>G
NM_153603.4:c.1240A>G MANE Select NP_705831.1:p.Asn414Asp