Canonical Allele Identifier: CA2632301676
Gene: COG7 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23416904T>C , CM000678.2:g.23416904T>C GRCh38
NC_000016.9:g.23428225T>C , CM000678.1:g.23428225T>C GRCh37
NC_000016.8:g.23335726T>C NCBI36
NG_021287.1:g.41288A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000307149.10:c.1292+63A>G MANE Select ENSP00000305442.5:n.1292+63A>G
ENST00000307149.9:c.1292+63A>G ENSP00000305442.5:n.1292+63A>G
ENST00000567821.1:n.327+63A>G
NM_153603.3:c.1292+63A>G NP_705831.1:n.1292+63A>G
XR_429680.1:n.1508+63A>G
XM_017023870.1:c.1097+63A>G XP_016879359.1:n.1097+63A>G
XR_002957852.1:n.1513+63A>G
XR_429680.2:n.1513+63A>G
NM_153603.4:c.1292+63A>G MANE Select NP_705831.1:n.1292+63A>G