Canonical Allele Identifier: CA824564999

Gene: KCNK5

Linked Data

• dbSNP Id: rs1186020689
• gnomAD v3: 6-39216007-G-T
• gnomAD v4: 6-39216007-G-T
• MyVariant Identifiers: chr6:g.39183783G>T (hg19) ; chr6:g.39216007G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.39216007G>T , CM000668.2:g.39216007G>T	GRCh38
NC_000006.11:g.39183783G>T , CM000668.1:g.39183783G>T	GRCh37
NC_000006.10:g.39291761G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359534.4:c.186+12919C>A MANE Select	ENSP00000352527.3:n.186+12919C>A
ENST00000359534.3:c.186+12919C>A	ENSP00000352527.3:n.186+12919C>A
NM_003740.3:c.186+12919C>A	NP_003731.1:n.186+12919C>A
XM_005249456.1:c.186+12919C>A	XP_005249513.1:n.186+12919C>A
NM_003740.4:c.186+12919C>A MANE Select	NP_003731.1:n.186+12919C>A