Canonical Allele Identifier: CA2632301685
Gene: COG7 HGNC NCBI

Linked Data

gnomAD v4: 16-23416919-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23416919G>T , CM000678.2:g.23416919G>T GRCh38
NC_000016.9:g.23428240G>T , CM000678.1:g.23428240G>T GRCh37
NC_000016.8:g.23335741G>T NCBI36
NG_021287.1:g.41273C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307149.10:c.1292+48C>A MANE Select ENSP00000305442.5:n.1292+48C>A
ENST00000307149.9:c.1292+48C>A ENSP00000305442.5:n.1292+48C>A
ENST00000567821.1:n.327+48C>A
NM_153603.3:c.1292+48C>A NP_705831.1:n.1292+48C>A
XR_429680.1:n.1508+48C>A
XM_017023870.1:c.1097+48C>A XP_016879359.1:n.1097+48C>A
XR_002957852.1:n.1513+48C>A
XR_429680.2:n.1513+48C>A
NM_153603.4:c.1292+48C>A MANE Select NP_705831.1:n.1292+48C>A
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