Canonical Allele Identifier: CA7961030
Gene: COG7 HGNC NCBI

Linked Data

dbSNP Id: rs755565192
ExAC: 16:23428259 C / T
gnomAD v2: 16-23428259-C-T
gnomAD v4: 16-23416938-C-T
MyVariant Identifiers: chr16:g.23428259C>T (hg19) chr16:g.23416938C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23416938C>T , CM000678.2:g.23416938C>T GRCh38
NC_000016.9:g.23428259C>T , CM000678.1:g.23428259C>T GRCh37
NC_000016.8:g.23335760C>T NCBI36
NG_021287.1:g.41254G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000307149.10:c.1292+29G>A MANE Select ENSP00000305442.5:n.1292+29G>A
ENST00000307149.9:c.1292+29G>A ENSP00000305442.5:n.1292+29G>A
ENST00000567821.1:n.327+29G>A
NM_153603.3:c.1292+29G>A NP_705831.1:n.1292+29G>A
XR_429680.1:n.1508+29G>A
XM_017023870.1:c.1097+29G>A XP_016879359.1:n.1097+29G>A
XR_002957852.1:n.1513+29G>A
XR_429680.2:n.1513+29G>A
NM_153603.4:c.1292+29G>A MANE Select NP_705831.1:n.1292+29G>A
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