Canonical Allele Identifier: CA2632301678
Gene: COG7 HGNC NCBI

Linked Data

gnomAD v4: 16-23416913-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23416913G>A , CM000678.2:g.23416913G>A GRCh38
NC_000016.9:g.23428234G>A , CM000678.1:g.23428234G>A GRCh37
NC_000016.8:g.23335735G>A NCBI36
NG_021287.1:g.41279C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000307149.10:c.1292+54C>T MANE Select ENSP00000305442.5:n.1292+54C>T
ENST00000307149.9:c.1292+54C>T ENSP00000305442.5:n.1292+54C>T
ENST00000567821.1:n.327+54C>T
NM_153603.3:c.1292+54C>T NP_705831.1:n.1292+54C>T
XR_429680.1:n.1508+54C>T
XM_017023870.1:c.1097+54C>T XP_016879359.1:n.1097+54C>T
XR_002957852.1:n.1513+54C>T
XR_429680.2:n.1513+54C>T
NM_153603.4:c.1292+54C>T MANE Select NP_705831.1:n.1292+54C>T
Search 100 bp 5'
Search 100 bp 3'