Canonical Allele Identifier: CA395119613
Gene: COG7 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.23428333A>C (hg19) chr16:g.23417012A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23417012A>C , CM000678.2:g.23417012A>C GRCh38
NC_000016.9:g.23428333A>C , CM000678.1:g.23428333A>C GRCh37
NC_000016.8:g.23335834A>C NCBI36
NG_021287.1:g.41180T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000307149.10:c.1247T>G MANE Select ENSP00000305442.5:p.Leu416Arg
ENST00000307149.9:c.1247T>G ENSP00000305442.5:p.Leu416Arg
ENST00000567821.1:n.282T>G
NM_153603.3:c.1247T>G NP_705831.1:p.Leu416Arg
XR_429680.1:n.1463T>G
XM_017023870.1:c.1052T>G XP_016879359.1:p.Leu351Arg
XR_002957852.1:n.1468T>G
XR_429680.2:n.1468T>G
NM_153603.4:c.1247T>G MANE Select NP_705831.1:p.Leu416Arg
Search 100 bp 5'
Search 100 bp 3'