Canonical Allele Identifier: CA137606794
Gene: KCNK5 HGNC NCBI

Linked Data

dbSNP Id: rs963899214
gnomAD v2: 6-39183745-A-T
gnomAD v3: 6-39215969-A-T
gnomAD v4: 6-39215969-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.39215969A>T , CM000668.2:g.39215969A>T GRCh38
NC_000006.11:g.39183745A>T , CM000668.1:g.39183745A>T GRCh37
NC_000006.10:g.39291723A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000359534.4:c.186+12957T>A MANE Select ENSP00000352527.3:n.186+12957T>A
ENST00000359534.3:c.186+12957T>A ENSP00000352527.3:n.186+12957T>A
NM_003740.3:c.186+12957T>A NP_003731.1:n.186+12957T>A
XM_005249456.1:c.186+12957T>A XP_005249513.1:n.186+12957T>A
NM_003740.4:c.186+12957T>A MANE Select NP_003731.1:n.186+12957T>A