Canonical Allele Identifier: CA15454355
Gene: KCNK17 HGNC NCBI

Linked Data

dbSNP Id: rs9471058
gnomAD v2: 6-39270610-C-A
gnomAD v3: 6-39302834-C-A
gnomAD v4: 6-39302834-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.39302834C>A , CM000668.2:g.39302834C>A GRCh38
NC_000006.11:g.39270610C>A , CM000668.1:g.39270610C>A GRCh37
NC_000006.10:g.39378588C>A NCBI36
NG_047208.1:g.16628G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000373231.9:c.688+1123G>T MANE Select ENSP00000362328.4:n.688+1123G>T
ENST00000373231.8:c.688+1123G>T ENSP00000362328.4:n.688+1123G>T
ENST00000453413.2:c.688+1123G>T ENSP00000401271.2:n.688+1123G>T
NM_001135111.1:c.688+1123G>T NP_001128583.1:n.688+1123G>T
NM_031460.3:c.688+1123G>T NP_113648.2:n.688+1123G>T
XM_006715239.2:c.688+1123G>T XP_006715302.1:n.688+1123G>T
XM_011514973.1:c.397+1123G>T XP_011513275.1:n.397+1123G>T
NM_031460.4:c.688+1123G>T MANE Select NP_113648.2:n.688+1123G>T
NM_001135111.2:c.688+1123G>T NP_001128583.1:n.688+1123G>T