Canonical Allele Identifier: CA566586203

Gene: KCNK5

Linked Data

• dbSNP Id: rs1284266055
• gnomAD v2: 6-39183662-C-G
• gnomAD v3: 6-39215886-C-G
• gnomAD v4: 6-39215886-C-G
• MyVariant Identifiers: chr6:g.39183662C>G (hg19) ; chr6:g.39215886C>G (hg38)

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