Canonical Allele Identifier: CA369852603

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150947367-A-T
• MyVariant Identifiers: chr7:g.150644455A>T (hg19) ; chr7:g.150947367A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947367A>T , CM000669.2:g.150947367A>T	GRCh38
NC_000007.13:g.150644455A>T , CM000669.1:g.150644455A>T	GRCh37
NC_000007.12:g.150275388A>T	NCBI36
NG_008916.1:g.35560T>A , LRG_288:g.35560T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3946T>A
ENST00000262186.10:c.3113T>A MANE Select	ENSP00000262186.5:p.Val1038Glu
ENST00000330883.9:c.2093T>A	ENSP00000328531.4:p.Val698Glu
ENST00000262186.9:c.3113T>A	ENSP00000262186.5:p.Val1038Glu
ENST00000330883.8:c.2093T>A	ENSP00000328531.4:p.Val698Glu
NM_000238.3:c.3113T>A , LRG_288t1:c.3113T>A	NP_000229.1:p.Val1038Glu
NM_172057.2:c.2093T>A , LRG_288t3:c.2093T>A	NP_742054.1:p.Val698Glu
XM_011516185.1:c.2813T>A	XP_011514487.1:p.Val938Glu
XM_011516185.2:c.2813T>A	XP_011514487.1:p.Val938Glu
XM_017012195.1:c.2963T>A	XP_016867684.1:p.Val988Glu
XM_017012196.1:c.2936T>A	XP_016867685.1:p.Val979Glu
NM_000238.4:c.3113T>A MANE Select	NP_000229.1:p.Val1038Glu
NM_172057.3:c.2093T>A	NP_742054.1:p.Val698Glu