Canonical Allele Identifier: CA137606846
Gene: KCNK5 HGNC NCBI

Linked Data

dbSNP Id: rs146784044
gnomAD v2: 6-39183841-C-T
gnomAD v3: 6-39216065-C-T
gnomAD v4: 6-39216065-C-T
MyVariant Identifiers: chr6:g.39183841C>T (hg19) chr6:g.39216065C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.39216065C>T , CM000668.2:g.39216065C>T GRCh38
NC_000006.11:g.39183841C>T , CM000668.1:g.39183841C>T GRCh37
NC_000006.10:g.39291819C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000359534.4:c.186+12861G>A MANE Select ENSP00000352527.3:n.186+12861G>A
ENST00000359534.3:c.186+12861G>A ENSP00000352527.3:n.186+12861G>A
NM_003740.3:c.186+12861G>A NP_003731.1:n.186+12861G>A
XM_005249456.1:c.186+12861G>A XP_005249513.1:n.186+12861G>A
NM_003740.4:c.186+12861G>A MANE Select NP_003731.1:n.186+12861G>A
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