Canonical Allele Identifier: CA405652077
Gene: KCNK6 HGNC NCBI
ClinVar RCV:
RCV004107260
ClinVar Variation:
2250541
gnomAD v4:
chr19-38320065-G-C
Joint Max Group AF 0.00000398 (SAS)
Exomes Max Group AF 0.00000423 (SAS)
MyVariant.info:
GRCh38 chr19:g.38320065G>C
GRCh37 chr19:g.38810705G>C
Revel Score:
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38320065G>C , CM000681.2:g.38320065G>C GRCh38
NC_000019.9:g.38810705G>C , CM000681.1:g.38810705G>C GRCh37
NC_000019.8:g.43502545G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000263372.5:c.115G>C MANE Select ENSP00000263372.2:p.Glu39Gln
ENST00000263372.4:c.115G>C ENSP00000263372.2:p.Glu39Gln
NM_004823.1:c.115G>C NP_004814.1:p.Glu39Gln
XM_011527526.1:c.-823G>C XP_011525828.1:n.-823G>C
XM_011527527.1:c.115G>C XP_011525829.1:p.Glu39Gln
NM_004823.2:c.115G>C NP_004814.1:p.Glu39Gln
XM_017027506.1:c.115G>C XP_016882995.1:p.Glu39Gln
XM_024451788.1:c.-1625G>C XP_024307556.1:n.-1625G>C
NM_004823.3:c.115G>C MANE Select NP_004814.1:p.Glu39Gln
Search 100 bp 5'
Search 100 bp 3'