Canonical Allele Identifier: CA15054979
Gene: KCNE5 HGNC NCBI
MyVariant.info:
GRCh38 chrX:g.109623948G>A
GRCh37 chrX:g.108867177G>A
gnomAD v2:
X:108867177 G / A
gnomAD v3:
X:109623948 G / A
gnomAD v4:
chrX-109623948-G-A
Joint Max Group AF 0.89272623 (EAS)
Genomes Max Group AF 0.89272623 (EAS)
Exomes Max Group AF 0.45705637 (NFE)
dbSNP:
697829
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.109623948G>A , CM000685.2:g.109623948G>A GRCh38
NC_000023.10:g.108867177G>A , CM000685.1:g.108867177G>A GRCh37
NC_000023.9:g.108753833G>A NCBI36
NG_013241.1:g.6217C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000372101.3:c.*644C>T MANE Select ENSP00000361173.2:n.*644C>T
NM_012282.2:c.*644C>T NP_036414.1:n.*644C>T
NM_012282.3:c.*644C>T NP_036414.1:n.*644C>T
NM_012282.4:c.*644C>T MANE Select NP_036414.1:n.*644C>T
Search 100 bp 5'
Search 100 bp 3'