Canonical Allele Identifier: CA824564960
Gene: KCNK5 HGNC NCBI

Linked Data

dbSNP Id: rs1208476807
gnomAD v3: 6-39215940-C-T
gnomAD v4: 6-39215940-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.39215940C>T , CM000668.2:g.39215940C>T GRCh38
NC_000006.11:g.39183716C>T , CM000668.1:g.39183716C>T GRCh37
NC_000006.10:g.39291694C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000359534.4:c.186+12986G>A MANE Select ENSP00000352527.3:n.186+12986G>A
ENST00000359534.3:c.186+12986G>A ENSP00000352527.3:n.186+12986G>A
NM_003740.3:c.186+12986G>A NP_003731.1:n.186+12986G>A
XM_005249456.1:c.186+12986G>A XP_005249513.1:n.186+12986G>A
NM_003740.4:c.186+12986G>A MANE Select NP_003731.1:n.186+12986G>A