Canonical Allele Identifier: CA369855044

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1464339
• ClinVar RCV Id: RCV001997932
• dbSNP Id: rs1801029078
• MyVariant Identifiers: chr7:g.150646036G>A (hg19) ; chr7:g.150948948G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948948G>A , CM000669.2:g.150948948G>A	GRCh38
NC_000007.13:g.150646036G>A , CM000669.1:g.150646036G>A	GRCh37
NC_000007.12:g.150276969G>A	NCBI36
NG_008916.1:g.33979C>T , LRG_288:g.33979C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3333C>T
ENST00000262186.10:c.2500C>T MANE Select	ENSP00000262186.5:p.His834Tyr
ENST00000330883.9:c.1480C>T	ENSP00000328531.4:p.His494Tyr
ENST00000262186.9:c.2500C>T	ENSP00000262186.5:p.His834Tyr
ENST00000330883.8:c.1480C>T	ENSP00000328531.4:p.His494Tyr
NM_000238.3:c.2500C>T , LRG_288t1:c.2500C>T	NP_000229.1:p.His834Tyr
NM_172057.2:c.1480C>T , LRG_288t3:c.1480C>T	NP_742054.1:p.His494Tyr
XM_011516185.1:c.2200C>T	XP_011514487.1:p.His734Tyr
XM_011516186.1:c.2500C>T	XP_011514488.1:p.His834Tyr
XM_011516185.2:c.2200C>T	XP_011514487.1:p.His734Tyr
XM_011516186.3:c.2500C>T	XP_011514488.1:p.His834Tyr
XM_017012195.1:c.2350C>T	XP_016867684.1:p.His784Tyr
XM_017012196.1:c.2323C>T	XP_016867685.1:p.His775Tyr
NM_000238.4:c.2500C>T MANE Select	NP_000229.1:p.His834Tyr
NM_172057.3:c.1480C>T	NP_742054.1:p.His494Tyr