Canonical Allele Identifier: CA16042568
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 373026
ClinVar RCV Id: RCV000414266 RCV001378550
dbSNP Id: rs1057518151
gnomAD v4: 7-150947327-C-A
MyVariant Identifiers: chr7:g.150644415C>A (hg19) chr7:g.150947327C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150947327C>A , CM000669.2:g.150947327C>A GRCh38
NC_000007.13:g.150644415C>A , CM000669.1:g.150644415C>A GRCh37
NC_000007.12:g.150275348C>A NCBI36
NG_008916.1:g.35600G>T , LRG_288:g.35600G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000684241.1:n.3985+1G>T
ENST00000262186.10:c.3152+1G>T MANE Select ENSP00000262186.5:n.3152+1G>T
ENST00000330883.9:c.2132+1G>T ENSP00000328531.4:n.2132+1G>T
ENST00000262186.9:c.3152+1G>T ENSP00000262186.5:n.3152+1G>T
ENST00000330883.8:c.2132+1G>T ENSP00000328531.4:n.2132+1G>T
NM_000238.3:c.3152+1G>T , LRG_288t1:c.3152+1G>T NP_000229.1:n.3152+1G>T
NM_172057.2:c.2132+1G>T , LRG_288t3:c.2132+1G>T NP_742054.1:n.2132+1G>T
XM_011516185.1:c.2852+1G>T XP_011514487.1:n.2852+1G>T
XM_011516185.2:c.2852+1G>T XP_011514487.1:n.2852+1G>T
XM_017012195.1:c.3002+1G>T XP_016867684.1:n.3002+1G>T
XM_017012196.1:c.2975+1G>T XP_016867685.1:n.2975+1G>T
NM_000238.4:c.3152+1G>T MANE Select NP_000229.1:n.3152+1G>T
NM_172057.3:c.2132+1G>T NP_742054.1:n.2132+1G>T
Search 100 bp 5'
Search 100 bp 3'