Canonical Allele Identifier: CA1139660329

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 947666
• ClinVar RCV Id: RCV001218782
• dbSNP Id: rs1800936242

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947369_150947373dup , CM000669.2:g.150947369_150947373dup	GRCh38
NC_000007.13:g.150644457_150644461dup , CM000669.1:g.150644457_150644461dup	GRCh37
NC_000007.12:g.150275390_150275394dup	NCBI36
NG_008916.1:g.35555_35559dup , LRG_288:g.35555_35559dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3941_3945dup
ENST00000262186.10:c.3108_3112dup MANE Select	ENSP00000262186.5:p.Val1038AlafsTer21
ENST00000330883.9:c.2088_2092dup	ENSP00000328531.4:p.Val698AlafsTer21
ENST00000262186.9:c.3108_3112dup	ENSP00000262186.5:p.Val1038AlafsTer21
ENST00000330883.8:c.2088_2092dup	ENSP00000328531.4:p.Val698AlafsTer21
NM_000238.3:c.3108_3112dup , LRG_288t1:c.3108_3112dup	NP_000229.1:p.Val1038AlafsTer21
NM_172057.2:c.2088_2092dup , LRG_288t3:c.2088_2092dup	NP_742054.1:p.Val698AlafsTer21
XM_011516185.1:c.2808_2812dup	XP_011514487.1:p.Val938AlafsTer21
XM_011516185.2:c.2808_2812dup	XP_011514487.1:p.Val938AlafsTer21
XM_017012195.1:c.2958_2962dup	XP_016867684.1:p.Val988AlafsTer21
XM_017012196.1:c.2931_2935dup	XP_016867685.1:p.Val979AlafsTer21
NM_000238.4:c.3108_3112dup MANE Select	NP_000229.1:p.Val1038AlafsTer21
NM_172057.3:c.2088_2092dup	NP_742054.1:p.Val698AlafsTer21