Canonical Allele Identifier: CA008172
Gene: KCNH2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 67487
ClinVar RCV Id: RCV000058216
dbSNP Id: rs199473041

User contributed link-outs

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
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
ENST00000262186.9:c.3302C>T ENSP00000262186.5:p.Pro1101Leu
ENST00000330883.8:c.2282C>T ENSP00000328531.4:p.Pro761Leu