Canonical Allele Identifier: CA137606831
Gene: KCNK5 HGNC NCBI

Linked Data

dbSNP Id: rs576924946
gnomAD v3: 6-39216046-G-A
gnomAD v4: 6-39216046-G-A
MyVariant Identifiers: chr6:g.39183822G>A (hg19) chr6:g.39216046G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.39216046G>A , CM000668.2:g.39216046G>A GRCh38
NC_000006.11:g.39183822G>A , CM000668.1:g.39183822G>A GRCh37
NC_000006.10:g.39291800G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000359534.4:c.186+12880C>T MANE Select ENSP00000352527.3:n.186+12880C>T
ENST00000359534.3:c.186+12880C>T ENSP00000352527.3:n.186+12880C>T
NM_003740.3:c.186+12880C>T NP_003731.1:n.186+12880C>T
XM_005249456.1:c.186+12880C>T XP_005249513.1:n.186+12880C>T
NM_003740.4:c.186+12880C>T MANE Select NP_003731.1:n.186+12880C>T
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