Canonical Allele Identifier: CA566586204
Gene: KCNK5 HGNC NCBI

Linked Data

dbSNP Id: rs1207909437
gnomAD v2: 6-39183711-A-G
gnomAD v3: 6-39215935-A-G
gnomAD v4: 6-39215935-A-G
MyVariant Identifiers: chr6:g.39183711A>G (hg19) chr6:g.39215935A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.39215935A>G , CM000668.2:g.39215935A>G GRCh38
NC_000006.11:g.39183711A>G , CM000668.1:g.39183711A>G GRCh37
NC_000006.10:g.39291689A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000359534.4:c.186+12991T>C MANE Select ENSP00000352527.3:n.186+12991T>C
ENST00000359534.3:c.186+12991T>C ENSP00000352527.3:n.186+12991T>C
NM_003740.3:c.186+12991T>C NP_003731.1:n.186+12991T>C
XM_005249456.1:c.186+12991T>C XP_005249513.1:n.186+12991T>C
NM_003740.4:c.186+12991T>C MANE Select NP_003731.1:n.186+12991T>C
Search 100 bp 5'
Search 100 bp 3'