Canonical Allele Identifier: CA137606748

Gene: KCNK5

Linked Data

• dbSNP Id: rs539752522
• gnomAD v2: 6-39183683-G-A
• gnomAD v3: 6-39215907-G-A
• gnomAD v4: 6-39215907-G-A
• MyVariant Identifiers: chr6:g.39183683G>A (hg19) ; chr6:g.39215907G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.39215907G>A , CM000668.2:g.39215907G>A	GRCh38
NC_000006.11:g.39183683G>A , CM000668.1:g.39183683G>A	GRCh37
NC_000006.10:g.39291661G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359534.4:c.186+13019C>T MANE Select	ENSP00000352527.3:n.186+13019C>T
ENST00000359534.3:c.186+13019C>T	ENSP00000352527.3:n.186+13019C>T
NM_003740.3:c.186+13019C>T	NP_003731.1:n.186+13019C>T
XM_005249456.1:c.186+13019C>T	XP_005249513.1:n.186+13019C>T
NM_003740.4:c.186+13019C>T MANE Select	NP_003731.1:n.186+13019C>T