Canonical Allele Identifier: CA008172
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 67487
ClinVar RCV Id: RCV000058216 RCV001854206
dbSNP Id: rs199473041
gnomAD v4: 7-150946905-G-A
MyVariant Identifiers: chr7:g.150643993G>A (hg19) chr7:g.150946905G>A (hg38)
PubMed: PMID:20851114 PMID:22581653
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150946905G>A , CM000669.2:g.150946905G>A GRCh38
NC_000007.13:g.150643993G>A , CM000669.1:g.150643993G>A GRCh37
NC_000007.12:g.150274926G>A NCBI36
NG_008916.1:g.36022C>T , LRG_288:g.36022C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000684241.1:n.4135C>T
ENST00000262186.10:c.3302C>T MANE Select ENSP00000262186.5:p.Pro1101Leu
ENST00000330883.9:c.2282C>T ENSP00000328531.4:p.Pro761Leu
ENST00000262186.9:c.3302C>T ENSP00000262186.5:p.Pro1101Leu
ENST00000330883.8:c.2282C>T ENSP00000328531.4:p.Pro761Leu
NM_000238.3:c.3302C>T , LRG_288t1:c.3302C>T NP_000229.1:p.Pro1101Leu
NM_172057.2:c.2282C>T , LRG_288t3:c.2282C>T NP_742054.1:p.Pro761Leu
XM_011516185.1:c.3002C>T XP_011514487.1:p.Pro1001Leu
XM_011516185.2:c.3002C>T XP_011514487.1:p.Pro1001Leu
XM_017012195.1:c.3152C>T XP_016867684.1:p.Pro1051Leu
XM_017012196.1:c.3125C>T XP_016867685.1:p.Pro1042Leu
NM_000238.4:c.3302C>T MANE Select NP_000229.1:p.Pro1101Leu
NM_172057.3:c.2282C>T NP_742054.1:p.Pro761Leu
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