Canonical Allele Identifier: CA12191256
Gene: KCNK5 HGNC NCBI

Linked Data

dbSNP Id: rs9471006
gnomAD v2: 6-39183830-G-A
gnomAD v3: 6-39216054-G-A
gnomAD v4: 6-39216054-G-A
MyVariant Identifiers: chr6:g.39183830G>A (hg19) chr6:g.39216054G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.39216054G>A , CM000668.2:g.39216054G>A GRCh38
NC_000006.11:g.39183830G>A , CM000668.1:g.39183830G>A GRCh37
NC_000006.10:g.39291808G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000359534.4:c.186+12872C>T MANE Select ENSP00000352527.3:n.186+12872C>T
ENST00000359534.3:c.186+12872C>T ENSP00000352527.3:n.186+12872C>T
NM_003740.3:c.186+12872C>T NP_003731.1:n.186+12872C>T
XM_005249456.1:c.186+12872C>T XP_005249513.1:n.186+12872C>T
NM_003740.4:c.186+12872C>T MANE Select NP_003731.1:n.186+12872C>T
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