Canonical Allele Identifier: CA008015
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 67473
ClinVar RCV Id: RCV001841746 RCV002321556
dbSNP Id: rs199473025
ExAC: 7:150644435 G / A
gnomAD v2: 7-150644435-G-A
gnomAD v3: 7-150947347-G-A
gnomAD v4: 7-150947347-G-A
MyVariant Identifiers: chr7:g.150644435G>A (hg19) chr7:g.150947347G>A (hg38)
PubMed: PMID:15176425 PMID:16244680 PMID:22402334 PMID:22581653
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150947347G>A , CM000669.2:g.150947347G>A GRCh38
NC_000007.13:g.150644435G>A , CM000669.1:g.150644435G>A GRCh37
NC_000007.12:g.150275368G>A NCBI36
NG_008916.1:g.35580C>T , LRG_288:g.35580C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000684241.1:n.3966C>T
ENST00000262186.10:c.3133C>T MANE Select ENSP00000262186.5:p.Leu1045Phe
ENST00000330883.9:c.2113C>T ENSP00000328531.4:p.Leu705Phe
ENST00000262186.9:c.3133C>T ENSP00000262186.5:p.Leu1045Phe
ENST00000330883.8:c.2113C>T ENSP00000328531.4:p.Leu705Phe
NM_000238.3:c.3133C>T , LRG_288t1:c.3133C>T NP_000229.1:p.Leu1045Phe
NM_172057.2:c.2113C>T , LRG_288t3:c.2113C>T NP_742054.1:p.Leu705Phe
XM_011516185.1:c.2833C>T XP_011514487.1:p.Leu945Phe
XM_011516185.2:c.2833C>T XP_011514487.1:p.Leu945Phe
XM_017012195.1:c.2983C>T XP_016867684.1:p.Leu995Phe
XM_017012196.1:c.2956C>T XP_016867685.1:p.Leu986Phe
NM_000238.4:c.3133C>T MANE Select NP_000229.1:p.Leu1045Phe
NM_172057.3:c.2113C>T NP_742054.1:p.Leu705Phe
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