Canonical Allele Identifier: CA1088085544
Gene: KCNK5 HGNC NCBI

Linked Data

dbSNP Id: rs1771425203
gnomAD v3: 6-39215913-G-A
gnomAD v4: 6-39215913-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.39215913G>A , CM000668.2:g.39215913G>A GRCh38
NC_000006.11:g.39183689G>A , CM000668.1:g.39183689G>A GRCh37
NC_000006.10:g.39291667G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000359534.4:c.186+13013C>T MANE Select ENSP00000352527.3:n.186+13013C>T
ENST00000359534.3:c.186+13013C>T ENSP00000352527.3:n.186+13013C>T
NM_003740.3:c.186+13013C>T NP_003731.1:n.186+13013C>T
XM_005249456.1:c.186+13013C>T XP_005249513.1:n.186+13013C>T
NM_003740.4:c.186+13013C>T MANE Select NP_003731.1:n.186+13013C>T