Canonical Allele Identifier: CA037127

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947368C>A , CM000669.2:g.150947368C>A	GRCh38
NC_000007.13:g.150644456C>A , CM000669.1:g.150644456C>A	GRCh37
NC_000007.12:g.150275389C>A	NCBI36
NG_008916.1:g.35559G>T , LRG_288:g.35559G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000238.4:c.3112G>T MANE Select	NP_000229.1:p.Val1038Leu
ENST00000262186.10:c.3112G>T MANE Select	ENSP00000262186.5:p.Val1038Leu
NM_000238.3:c.3112G>T , LRG_288t1:c.3112G>T	NP_000229.1:p.Val1038Leu
NM_172057.2:c.2092G>T , LRG_288t3:c.2092G>T	NP_742054.1:p.Val698Leu
NM_172057.3:c.2092G>T	NP_742054.1:p.Val698Leu
ENST00000262186.9:c.3112G>T	ENSP00000262186.5:p.Val1038Leu
ENST00000330883.8:c.2092G>T	ENSP00000328531.4:p.Val698Leu
ENST00000330883.9:c.2092G>T	ENSP00000328531.4:p.Val698Leu
ENST00000684241.1:n.3945G>T
XM_011516185.1:c.2812G>T	XP_011514487.1:p.Val938Leu
XM_011516185.2:c.2812G>T	XP_011514487.1:p.Val938Leu
XM_017012195.1:c.2962G>T	XP_016867684.1:p.Val988Leu
XM_017012196.1:c.2935G>T	XP_016867685.1:p.Val979Leu