Canonical Allele Identifier: CA007991
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 67471
ClinVar RCV Id: RCV001804794 RCV001841744 RCV003894913
dbSNP Id: rs199473544
ExAC: 7:150644456 C / T
gnomAD v2: 7-150644456-C-T
gnomAD v3: 7-150947368-C-T
gnomAD v4: 7-150947368-C-T
MyVariant Identifiers: chr7:g.150644456C>T (hg19) chr7:g.150947368C>T (hg38)
PubMed: PMID:19716085 PMID:22581653
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150947368C>T , CM000669.2:g.150947368C>T GRCh38
NC_000007.13:g.150644456C>T , CM000669.1:g.150644456C>T GRCh37
NC_000007.12:g.150275389C>T NCBI36
NG_008916.1:g.35559G>A , LRG_288:g.35559G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000684241.1:n.3945G>A
ENST00000262186.10:c.3112G>A MANE Select ENSP00000262186.5:p.Val1038Met
ENST00000330883.9:c.2092G>A ENSP00000328531.4:p.Val698Met
ENST00000262186.9:c.3112G>A ENSP00000262186.5:p.Val1038Met
ENST00000330883.8:c.2092G>A ENSP00000328531.4:p.Val698Met
NM_000238.3:c.3112G>A , LRG_288t1:c.3112G>A NP_000229.1:p.Val1038Met
NM_172057.2:c.2092G>A , LRG_288t3:c.2092G>A NP_742054.1:p.Val698Met
XM_011516185.1:c.2812G>A XP_011514487.1:p.Val938Met
XM_011516185.2:c.2812G>A XP_011514487.1:p.Val938Met
XM_017012195.1:c.2962G>A XP_016867684.1:p.Val988Met
XM_017012196.1:c.2935G>A XP_016867685.1:p.Val979Met
NM_000238.4:c.3112G>A MANE Select NP_000229.1:p.Val1038Met
NM_172057.3:c.2092G>A NP_742054.1:p.Val698Met
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