Canonical Allele Identifier: CA279521516
Gene: COG7 HGNC NCBI

Linked Data

ClinVar Variation Id: 1029238
ClinVar RCV Id: RCV001330473
dbSNP Id: rs966821454
gnomAD v2: 16-23428430-C-A
gnomAD v4: 16-23417109-C-A
MyVariant Identifiers: chr16:g.23428430C>A (hg19) chr16:g.23417109C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23417109C>A , CM000678.2:g.23417109C>A GRCh38
NC_000016.9:g.23428430C>A , CM000678.1:g.23428430C>A GRCh37
NC_000016.8:g.23335931C>A NCBI36
NG_021287.1:g.41083G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307149.10:c.1150G>T MANE Select ENSP00000305442.5:p.Val384Leu
ENST00000307149.9:c.1150G>T ENSP00000305442.5:p.Val384Leu
ENST00000567821.1:n.185G>T
NM_153603.3:c.1150G>T NP_705831.1:p.Val384Leu
XR_429680.1:n.1366G>T
XM_017023870.1:c.955G>T XP_016879359.1:p.Val319Leu
XR_002957852.1:n.1371G>T
XR_429680.2:n.1371G>T
NM_153603.4:c.1150G>T MANE Select NP_705831.1:p.Val384Leu
Search 100 bp 5'
Search 100 bp 3'