Canonical Allele Identifier: CA7961056

Gene: COG7

Linked Data

• ClinVar Variation Id: 318477
• ClinVar RCV Id: RCV000827212 ; RCV001081679 ; RCV003940247
• dbSNP Id: rs116331296
• ExAC: 16:23428402 T / C
• gnomAD v2: 16-23428402-T-C
• gnomAD v3: 16-23417081-T-C
• gnomAD v4: 16-23417081-T-C
• MyVariant Identifiers: chr16:g.23428402T>C (hg19) ; chr16:g.23417081T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23417081T>C , CM000678.2:g.23417081T>C	GRCh38
NC_000016.9:g.23428402T>C , CM000678.1:g.23428402T>C	GRCh37
NC_000016.8:g.23335903T>C	NCBI36
NG_021287.1:g.41111A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307149.10:c.1178A>G MANE Select	ENSP00000305442.5:p.His393Arg
ENST00000307149.9:c.1178A>G	ENSP00000305442.5:p.His393Arg
ENST00000567821.1:n.213A>G
NM_153603.3:c.1178A>G	NP_705831.1:p.His393Arg
XR_429680.1:n.1394A>G
XM_017023870.1:c.983A>G	XP_016879359.1:p.His328Arg
XR_002957852.1:n.1399A>G
XR_429680.2:n.1399A>G
NM_153603.4:c.1178A>G MANE Select	NP_705831.1:p.His393Arg