Canonical Allele Identifier: CA566586209
Gene: KCNK5 HGNC NCBI

Linked Data

dbSNP Id: rs1158369078
gnomAD v2: 6-39183791-G-C
gnomAD v3: 6-39216015-G-C
gnomAD v4: 6-39216015-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.39216015G>C , CM000668.2:g.39216015G>C GRCh38
NC_000006.11:g.39183791G>C , CM000668.1:g.39183791G>C GRCh37
NC_000006.10:g.39291769G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000359534.4:c.186+12911C>G MANE Select ENSP00000352527.3:n.186+12911C>G
ENST00000359534.3:c.186+12911C>G ENSP00000352527.3:n.186+12911C>G
NM_003740.3:c.186+12911C>G NP_003731.1:n.186+12911C>G
XM_005249456.1:c.186+12911C>G XP_005249513.1:n.186+12911C>G
NM_003740.4:c.186+12911C>G MANE Select NP_003731.1:n.186+12911C>G