Canonical Allele Identifier: CA1752428447

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947350_150947368delinsCATCCAGCCTGCTCTCCAC , CM000669.2:g.150947350_150947368delinsCATCCAGCCTGCTCTCCAC	GRCh38
NC_000007.13:g.150644438_150644456delinsCATCCAGCCTGCTCTCCAC , CM000669.1:g.150644438_150644456delinsCATCCAGCCTGCTCTCCAC	GRCh37
NC_000007.12:g.150275371_150275389delinsCATCCAGCCTGCTCTCCAC	NCBI36
NG_008916.1:g.35559_35577delinsGTGGAGAGCAGGCTGGATG , LRG_288:g.35559_35577delinsGTGGAGAGCAGGCTGGATG

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3945_3963delinsGTGGAGAGCAGGCTGGATG
ENST00000262186.10:c.3112_3130delinsGTGGAGAGCAGGCTGGATG MANE Select	ENSP00000262186.5:p.Val1038=
ENST00000330883.9:c.2092_2110delinsGTGGAGAGCAGGCTGGATG	ENSP00000328531.4:p.Val698=
ENST00000262186.9:c.3112_3130delinsGTGGAGAGCAGGCTGGATG	ENSP00000262186.5:p.Val1038=
ENST00000330883.8:c.2092_2110delinsGTGGAGAGCAGGCTGGATG	ENSP00000328531.4:p.Val698=
NM_000238.3:c.3112_3130delinsGTGGAGAGCAGGCTGGATG , LRG_288t1:c.3112_3130delinsGTGGAGAGCAGGCTGGATG	NP_000229.1:p.Val1038=
NM_172057.2:c.2092_2110delinsGTGGAGAGCAGGCTGGATG , LRG_288t3:c.2092_2110delinsGTGGAGAGCAGGCTGGATG	NP_742054.1:p.Val698=
XM_011516185.1:c.2812_2830delinsGTGGAGAGCAGGCTGGATG	XP_011514487.1:p.Val938=
XM_011516185.2:c.2812_2830delinsGTGGAGAGCAGGCTGGATG	XP_011514487.1:p.Val938=
XM_017012195.1:c.2962_2980delinsGTGGAGAGCAGGCTGGATG	XP_016867684.1:p.Val988=
XM_017012196.1:c.2935_2953delinsGTGGAGAGCAGGCTGGATG	XP_016867685.1:p.Val979=
NM_000238.4:c.3112_3130delinsGTGGAGAGCAGGCTGGATG MANE Select	NP_000229.1:p.Val1038=
NM_172057.3:c.2092_2110delinsGTGGAGAGCAGGCTGGATG	NP_742054.1:p.Val698=