Canonical Allele Identifier: CA004336

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 200546
• ClinVar RCV Id: RCV000181925 ; RCV003647756
• dbSNP Id: rs199473488
• MyVariant Identifiers: chr7:g.150671981A>G (hg19) ; chr7:g.150974893A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150974893A>G , CM000669.2:g.150974893A>G	GRCh38
NC_000007.13:g.150671981A>G , CM000669.1:g.150671981A>G	GRCh37
NC_000007.12:g.150302914A>G	NCBI36
NG_008916.1:g.8034T>C , LRG_288:g.8034T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262186.10:c.125T>C MANE Select	ENSP00000262186.5:p.Ile42Thr
ENST00000262186.9:c.125T>C	ENSP00000262186.5:p.Ile42Thr
ENST00000430723.4:c.-53T>C	ENSP00000387657.4:n.-53T>C
ENST00000532957.5:n.348T>C
NM_000238.3:c.125T>C , LRG_288t1:c.125T>C	NP_000229.1:p.Ile42Thr
NM_172056.2:c.125T>C , LRG_288t2:c.125T>C	NP_742053.1:p.Ile42Thr
XM_011516186.1:c.125T>C	XP_011514488.1:p.Ile42Thr
XM_011516186.3:c.125T>C	XP_011514488.1:p.Ile42Thr
XM_017012196.1:c.-53T>C	XP_016867685.1:n.-53T>C
NM_000238.4:c.125T>C MANE Select	NP_000229.1:p.Ile42Thr