Canonical Allele Identifier: CA566586198

Gene: KCNK5

Linked Data

• dbSNP Id: rs1450980703
• gnomAD v2: 6-39183484-T-C
• gnomAD v3: 6-39215708-T-C
• gnomAD v4: 6-39215708-T-C
• MyVariant Identifiers: chr6:g.39183484T>C (hg19) ; chr6:g.39215708T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.39215708T>C , CM000668.2:g.39215708T>C	GRCh38
NC_000006.11:g.39183484T>C , CM000668.1:g.39183484T>C	GRCh37
NC_000006.10:g.39291462T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359534.4:c.186+13218A>G MANE Select	ENSP00000352527.3:n.186+13218A>G
ENST00000359534.3:c.186+13218A>G	ENSP00000352527.3:n.186+13218A>G
NM_003740.3:c.186+13218A>G	NP_003731.1:n.186+13218A>G
XM_005249456.1:c.186+13218A>G	XP_005249513.1:n.186+13218A>G
NM_003740.4:c.186+13218A>G MANE Select	NP_003731.1:n.186+13218A>G