Canonical Allele Identifier: CA824564981
Gene: KCNK5 HGNC NCBI

Linked Data

dbSNP Id: rs963899214
gnomAD v3: 6-39215969-A-G
gnomAD v4: 6-39215969-A-G
MyVariant Identifiers: chr6:g.39183745A>G (hg19) chr6:g.39215969A>G (hg38)
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Genomic Alleles

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

Transcript Alleles

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