Canonical Allele Identifier: CA1088085551
Gene: KCNK5 HGNC NCBI

Linked Data

dbSNP Id: rs1771425473
gnomAD v3: 6-39215930-A-C
gnomAD v4: 6-39215930-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.39215930A>C , CM000668.2:g.39215930A>C GRCh38
NC_000006.11:g.39183706A>C , CM000668.1:g.39183706A>C GRCh37
NC_000006.10:g.39291684A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000359534.4:c.186+12996T>G MANE Select ENSP00000352527.3:n.186+12996T>G
ENST00000359534.3:c.186+12996T>G ENSP00000352527.3:n.186+12996T>G
NM_003740.3:c.186+12996T>G NP_003731.1:n.186+12996T>G
XM_005249456.1:c.186+12996T>G XP_005249513.1:n.186+12996T>G
NM_003740.4:c.186+12996T>G MANE Select NP_003731.1:n.186+12996T>G