Canonical Allele Identifier: CA7961076

Gene: COG7

Linked Data

• ClinVar Variation Id: 318478
• ClinVar RCV Id: RCV000359547 ; RCV000616074
• dbSNP Id: rs74012174
• ExAC: 16:23430010 T / G
• gnomAD v2: 16-23430010-T-G
• gnomAD v3: 16-23418689-T-G
• gnomAD v4: 16-23418689-T-G
• MyVariant Identifiers: chr16:g.23430010T>G (hg19) ; chr16:g.23418689T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23418689T>G , CM000678.2:g.23418689T>G	GRCh38
NC_000016.9:g.23430010T>G , CM000678.1:g.23430010T>G	GRCh37
NC_000016.8:g.23337511T>G	NCBI36
NG_021287.1:g.39503A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307149.10:c.1137+11A>C MANE Select	ENSP00000305442.5:n.1137+11A>C
ENST00000307149.9:c.1137+11A>C	ENSP00000305442.5:n.1137+11A>C
NM_153603.3:c.1137+11A>C	NP_705831.1:n.1137+11A>C
XR_429680.1:n.1353+11A>C
XM_017023870.1:c.942+11A>C	XP_016879359.1:n.942+11A>C
XR_002957852.1:n.1358+11A>C
XR_429680.2:n.1358+11A>C
NM_153603.4:c.1137+11A>C MANE Select	NP_705831.1:n.1137+11A>C