Canonical Allele Identifier: CA7961335

Gene: COG7

Linked Data

• ClinVar Variation Id: 518138
• ClinVar RCV Id: RCV000614021 ; RCV001121245
• dbSNP Id: rs201965984
• ExAC: 16:23456497 G / A
• gnomAD v2: 16-23456497-G-A
• gnomAD v3: 16-23445176-G-A
• gnomAD v4: 16-23445176-G-A
• MyVariant Identifiers: chr16:g.23456497G>A (hg19) ; chr16:g.23445176G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23445176G>A , CM000678.2:g.23445176G>A	GRCh38
NC_000016.9:g.23456497G>A , CM000678.1:g.23456497G>A	GRCh37
NC_000016.8:g.23363998G>A	NCBI36
NG_021287.1:g.13016C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307149.10:c.319-12C>T MANE Select	ENSP00000305442.5:n.319-12C>T
ENST00000307149.9:c.319-12C>T	ENSP00000305442.5:n.319-12C>T
NM_153603.3:c.319-12C>T	NP_705831.1:n.319-12C>T
XR_429680.1:n.535-12C>T
XM_017023870.1:c.124-12C>T	XP_016879359.1:n.124-12C>T
XR_002957852.1:n.540-12C>T
XR_429680.2:n.540-12C>T
NM_153603.4:c.319-12C>T MANE Select	NP_705831.1:n.319-12C>T