Canonical Allele Identifier: CA7961366

Gene: COG7

Linked Data

• ClinVar Variation Id: 318491
• ClinVar RCV Id: RCV000286753 ; RCV003940248
• dbSNP Id: rs544015151
• ExAC: 16:23457286 T / C
• gnomAD v2: 16-23457286-T-C
• gnomAD v3: 16-23445965-T-C
• gnomAD v4: 16-23445965-T-C
• MyVariant Identifiers: chr16:g.23457286T>C (hg19) ; chr16:g.23445965T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23445965T>C , CM000678.2:g.23445965T>C	GRCh38
NC_000016.9:g.23457286T>C , CM000678.1:g.23457286T>C	GRCh37
NC_000016.8:g.23364787T>C	NCBI36
NG_021287.1:g.12227A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307149.10:c.170-4A>G MANE Select	ENSP00000305442.5:n.170-4A>G
ENST00000307149.9:c.170-4A>G	ENSP00000305442.5:n.170-4A>G
NM_153603.3:c.170-4A>G	NP_705831.1:n.170-4A>G
XR_429680.1:n.386-4A>G
XM_017023870.1:c.-26-4A>G	XP_016879359.1:n.-26-4A>G
XR_002957852.1:n.391-4A>G
XR_429680.2:n.391-4A>G
NM_153603.4:c.170-4A>G MANE Select	NP_705831.1:n.170-4A>G