Canonical Allele Identifier: CA035467

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947641C>A , CM000669.2:g.150947641C>A	GRCh38
NC_000007.13:g.150644729C>A , CM000669.1:g.150644729C>A	GRCh37
NC_000007.12:g.150275662C>A	NCBI36
NG_008916.1:g.35286G>T , LRG_288:g.35286G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000238.4:c.2930G>T MANE Select	NP_000229.1:p.Cys977Phe
ENST00000262186.10:c.2930G>T MANE Select	ENSP00000262186.5:p.Cys977Phe
NM_000238.3:c.2930G>T , LRG_288t1:c.2930G>T	NP_000229.1:p.Cys977Phe
NM_172057.2:c.1910G>T , LRG_288t3:c.1910G>T	NP_742054.1:p.Cys637Phe
NM_172057.3:c.1910G>T	NP_742054.1:p.Cys637Phe
ENST00000262186.9:c.2930G>T	ENSP00000262186.5:p.Cys977Phe
ENST00000330883.8:c.1910G>T	ENSP00000328531.4:p.Cys637Phe
ENST00000330883.9:c.1910G>T	ENSP00000328531.4:p.Cys637Phe
ENST00000684241.1:n.3763G>T
XM_011516185.1:c.2630G>T	XP_011514487.1:p.Cys877Phe
XM_011516185.2:c.2630G>T	XP_011514487.1:p.Cys877Phe
XM_011516186.1:c.*10G>T	XP_011514488.1:n.*10G>T
XM_011516186.3:c.*10G>T	XP_011514488.1:n.*10G>T
XM_017012195.1:c.2780G>T	XP_016867684.1:p.Cys927Phe
XM_017012196.1:c.2753G>T	XP_016867685.1:p.Cys918Phe