Canonical Allele Identifier: CA205891
Gene: KCNH5 HGNC NCBI
MyVariant.info:
GRCh38 chr14:g.62981273G>C
GRCh37 chr14:g.63447991G>C
gnomAD v2:
14:63447991 G / C
gnomAD v3:
14:62981273 G / C
gnomAD v4:
chr14-62981273-G-C
Joint Max Group AF 0.00002394 (NFE)
Exomes Max Group AF 0.00002456 (NFE)
ClinVar Allele:
208121
ClinVar RCV:
RCV000192806
RCV002054267
ClinVar Variation:
211217
dbSNP:
374202650
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.62981273G>C , CM000676.2:g.62981273G>C GRCh38
NC_000014.8:g.63447991G>C , CM000676.1:g.63447991G>C GRCh37
NC_000014.7:g.62517744G>C NCBI36
NG_034062.1:g.68966C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000322893.12:c.550-9C>G MANE Select ENSP00000321427.7:n.550-9C>G
ENST00000322893.11:c.550-9C>G ENSP00000321427.7:n.550-9C>G
ENST00000394964.3:n.715-9C>G
ENST00000394968.2:c.376-9C>G ENSP00000378419.1:n.376-9C>G
ENST00000420622.6:c.550-9C>G ENSP00000395439.2:n.550-9C>G
NM_139318.4:c.550-9C>G NP_647479.2:n.550-9C>G
NM_172375.2:c.550-9C>G NP_758963.1:n.550-9C>G
XM_011536658.1:c.550-9C>G XP_011534960.1:n.550-9C>G
NM_139318.5:c.550-9C>G MANE Select NP_647479.2:n.550-9C>G
NM_172375.3:c.550-9C>G NP_758963.1:n.550-9C>G
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