Canonical Allele Identifier: CA7217202

Gene: KCNH5

Linked Data

• ClinVar Variation Id: 530601
• ClinVar RCV Id: RCV001427739
• dbSNP Id: rs147205656
• ExAC: 14:63174487 G / C
• gnomAD v2: 14-63174487-G-C
• gnomAD v3: 14-62707769-G-C
• gnomAD v4: 14-62707769-G-C
• MyVariant Identifiers: chr14:g.63174487G>C (hg19) ; chr14:g.62707769G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.62707769G>C , CM000676.2:g.62707769G>C	GRCh38
NC_000014.8:g.63174487G>C , CM000676.1:g.63174487G>C	GRCh37
NC_000014.7:g.62244240G>C	NCBI36
NG_034062.1:g.342470C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322893.12:c.2706C>G MANE Select	ENSP00000321427.7:p.Pro902=
ENST00000322893.11:c.2706C>G	ENSP00000321427.7:p.Pro902=
ENST00000420622.6:c.2509C>G	ENSP00000395439.2:n.2509C>G
NM_139318.4:c.2706C>G	NP_647479.2:p.Pro902=
NM_172375.2:c.*673C>G	NP_758963.1:n.*673C>G
NM_139318.5:c.2706C>G MANE Select	NP_647479.2:p.Pro902=
NM_172375.3:c.*673C>G	NP_758963.1:n.*673C>G