Canonical Allele Identifier: CA16262524

Gene: KCNK5

Linked Data

• dbSNP Id: rs111745125
• gnomAD v2: 6-39183483-A-G
• gnomAD v3: 6-39215707-A-G
• gnomAD v4: 6-39215707-A-G
• MyVariant Identifiers: chr6:g.39183483A>G (hg19) ; chr6:g.39215707A>G (hg38)
• Allelic Epigenome: Alellic Epigenome (raw data)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.39215707A>G , CM000668.2:g.39215707A>G	GRCh38
NC_000006.11:g.39183483A>G , CM000668.1:g.39183483A>G	GRCh37
NC_000006.10:g.39291461A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359534.4:c.186+13219T>C MANE Select	ENSP00000352527.3:n.186+13219T>C
ENST00000359534.3:c.186+13219T>C	ENSP00000352527.3:n.186+13219T>C
NM_003740.3:c.186+13219T>C	NP_003731.1:n.186+13219T>C
XM_005249456.1:c.186+13219T>C	XP_005249513.1:n.186+13219T>C
NM_003740.4:c.186+13219T>C MANE Select	NP_003731.1:n.186+13219T>C