Canonical Allele Identifier: CA1088100735
Gene: KCNK17 HGNC NCBI

Linked Data

dbSNP Id: rs1762011795
gnomAD v3: 6-39305043-C-G
gnomAD v4: 6-39305043-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.39305043C>G , CM000668.2:g.39305043C>G GRCh38
NC_000006.11:g.39272819C>G , CM000668.1:g.39272819C>G GRCh37
NC_000006.10:g.39380797C>G NCBI36
NG_047208.1:g.14419G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000373231.9:c.353-388G>C MANE Select ENSP00000362328.4:n.353-388G>C
ENST00000373231.8:c.353-388G>C ENSP00000362328.4:n.353-388G>C
ENST00000453413.2:c.353-388G>C ENSP00000401271.2:n.353-388G>C
ENST00000503878.1:n.458-388G>C
NM_001135111.1:c.353-388G>C NP_001128583.1:n.353-388G>C
NM_031460.3:c.353-388G>C NP_113648.2:n.353-388G>C
XM_006715239.2:c.353-388G>C XP_006715302.1:n.353-388G>C
XM_011514973.1:c.62-388G>C XP_011513275.1:n.62-388G>C
NM_031460.4:c.353-388G>C MANE Select NP_113648.2:n.353-388G>C
NM_001135111.2:c.353-388G>C NP_001128583.1:n.353-388G>C