Canonical Allele Identifier: CA578701520

Gene: KCNH2

Linked Data

• dbSNP Id: rs1442258512
• gnomAD v2: 7-150645414-T-A
• gnomAD v3: 7-150948326-T-A
• gnomAD v4: 7-150948326-T-A
• MyVariant Identifiers: chr7:g.150645414T>A (hg19) ; chr7:g.150948326T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948326T>A , CM000669.2:g.150948326T>A	GRCh38
NC_000007.13:g.150645414T>A , CM000669.1:g.150645414T>A	GRCh37
NC_000007.12:g.150276347T>A	NCBI36
NG_008916.1:g.34601A>T , LRG_288:g.34601A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3525+118A>T
ENST00000262186.10:c.2692+118A>T MANE Select	ENSP00000262186.5:n.2692+118A>T
ENST00000330883.9:c.1672+118A>T	ENSP00000328531.4:n.1672+118A>T
ENST00000262186.9:c.2692+118A>T	ENSP00000262186.5:n.2692+118A>T
ENST00000330883.8:c.1672+118A>T	ENSP00000328531.4:n.1672+118A>T
NM_000238.3:c.2692+118A>T , LRG_288t1:c.2692+118A>T	NP_000229.1:n.2692+118A>T
NM_172057.2:c.1672+118A>T , LRG_288t3:c.1672+118A>T	NP_742054.1:n.1672+118A>T
XM_011516185.1:c.2392+118A>T	XP_011514487.1:n.2392+118A>T
XM_011516186.1:c.2692+118A>T	XP_011514488.1:n.2692+118A>T
XM_011516185.2:c.2392+118A>T	XP_011514487.1:n.2392+118A>T
XM_011516186.3:c.2692+118A>T	XP_011514488.1:n.2692+118A>T
XM_017012195.1:c.2542+118A>T	XP_016867684.1:n.2542+118A>T
XM_017012196.1:c.2515+118A>T	XP_016867685.1:n.2515+118A>T
NM_000238.4:c.2692+118A>T MANE Select	NP_000229.1:n.2692+118A>T
NM_172057.3:c.1672+118A>T	NP_742054.1:n.1672+118A>T