Canonical Allele Identifier: CA494168473
Gene: COG7 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.23428251A>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23416930A>C , CM000678.2:g.23416930A>C GRCh38
NC_000016.9:g.23428251A>C , CM000678.1:g.23428251A>C GRCh37
NC_000016.8:g.23335752A>C NCBI36
NG_021287.1:g.41262T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000307149.10:c.1292+37T>G MANE Select ENSP00000305442.5:n.1292+37T>G
ENST00000307149.9:c.1292+37T>G ENSP00000305442.5:n.1292+37T>G
ENST00000567821.1:n.327+37T>G
NM_153603.3:c.1292+37T>G NP_705831.1:n.1292+37T>G
XR_429680.1:n.1508+37T>G
XM_017023870.1:c.1097+37T>G XP_016879359.1:n.1097+37T>G
XR_002957852.1:n.1513+37T>G
XR_429680.2:n.1513+37T>G
NM_153603.4:c.1292+37T>G MANE Select NP_705831.1:n.1292+37T>G
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