Canonical Allele Identifier: CA621331779

Gene: COG7

Linked Data

• dbSNP Id: rs1315032254
• gnomAD v2: 16-23428254-G-A
• gnomAD v4: 16-23416933-G-A
• MyVariant Identifiers: chr16:g.23428254G>A (hg19) ; chr16:g.23416933G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23416933G>A , CM000678.2:g.23416933G>A	GRCh38
NC_000016.9:g.23428254G>A , CM000678.1:g.23428254G>A	GRCh37
NC_000016.8:g.23335755G>A	NCBI36
NG_021287.1:g.41259C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307149.10:c.1292+34C>T MANE Select	ENSP00000305442.5:n.1292+34C>T
ENST00000307149.9:c.1292+34C>T	ENSP00000305442.5:n.1292+34C>T
ENST00000567821.1:n.327+34C>T
NM_153603.3:c.1292+34C>T	NP_705831.1:n.1292+34C>T
XR_429680.1:n.1508+34C>T
XM_017023870.1:c.1097+34C>T	XP_016879359.1:n.1097+34C>T
XR_002957852.1:n.1513+34C>T
XR_429680.2:n.1513+34C>T
NM_153603.4:c.1292+34C>T MANE Select	NP_705831.1:n.1292+34C>T