Canonical Allele Identifier: CA169074743

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 926395
• ClinVar RCV Id: RCV001841063 ; RCV002069053
• dbSNP Id: rs897540177
• gnomAD v2: 7-150645974-G-A
• gnomAD v4: 7-150948886-G-A
• MyVariant Identifiers: chr7:g.150645974G>A (hg19) ; chr7:g.150948886G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948886G>A , CM000669.2:g.150948886G>A	GRCh38
NC_000007.13:g.150645974G>A , CM000669.1:g.150645974G>A	GRCh37
NC_000007.12:g.150276907G>A	NCBI36
NG_008916.1:g.34041C>T , LRG_288:g.34041C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3395C>T
ENST00000262186.10:c.2562C>T MANE Select	ENSP00000262186.5:p.Ser854=
ENST00000330883.9:c.1542C>T	ENSP00000328531.4:p.Ser514=
ENST00000262186.9:c.2562C>T	ENSP00000262186.5:p.Ser854=
ENST00000330883.8:c.1542C>T	ENSP00000328531.4:p.Ser514=
NM_000238.3:c.2562C>T , LRG_288t1:c.2562C>T	NP_000229.1:p.Ser854=
NM_172057.2:c.1542C>T , LRG_288t3:c.1542C>T	NP_742054.1:p.Ser514=
XM_011516185.1:c.2262C>T	XP_011514487.1:p.Ser754=
XM_011516186.1:c.2562C>T	XP_011514488.1:p.Ser854=
XM_011516185.2:c.2262C>T	XP_011514487.1:p.Ser754=
XM_011516186.3:c.2562C>T	XP_011514488.1:p.Ser854=
XM_017012195.1:c.2412C>T	XP_016867684.1:p.Ser804=
XM_017012196.1:c.2385C>T	XP_016867685.1:p.Ser795=
NM_000238.4:c.2562C>T MANE Select	NP_000229.1:p.Ser854=
NM_172057.3:c.1542C>T	NP_742054.1:p.Ser514=