Canonical Allele Identifier: CA566586203
Gene: KCNK5 HGNC NCBI

Linked Data

dbSNP Id: rs1284266055
gnomAD v2: 6-39183662-C-G
gnomAD v3: 6-39215886-C-G
gnomAD v4: 6-39215886-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.39215886C>G , CM000668.2:g.39215886C>G GRCh38
NC_000006.11:g.39183662C>G , CM000668.1:g.39183662C>G GRCh37
NC_000006.10:g.39291640C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000359534.4:c.186+13040G>C MANE Select ENSP00000352527.3:n.186+13040G>C
ENST00000359534.3:c.186+13040G>C ENSP00000352527.3:n.186+13040G>C
NM_003740.3:c.186+13040G>C NP_003731.1:n.186+13040G>C
XM_005249456.1:c.186+13040G>C XP_005249513.1:n.186+13040G>C
NM_003740.4:c.186+13040G>C MANE Select NP_003731.1:n.186+13040G>C