Canonical Allele Identifier: CA034153

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1140235
• ClinVar RCV Id: RCV001477204 ; RCV002456832 ; RCV003591873
• dbSNP Id: rs376008424
• ExAC: 7:150645539 C / A
• gnomAD v2: 7-150645539-C-A
• gnomAD v3: 7-150948451-C-A
• gnomAD v4: 7-150948451-C-A
• MyVariant Identifiers: chr7:g.150645539C>A (hg19) ; chr7:g.150948451C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948451C>A , CM000669.2:g.150948451C>A	GRCh38
NC_000007.13:g.150645539C>A , CM000669.1:g.150645539C>A	GRCh37
NC_000007.12:g.150276472C>A	NCBI36
NG_008916.1:g.34476G>T , LRG_288:g.34476G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3518G>T
ENST00000262186.10:c.2685G>T MANE Select	ENSP00000262186.5:p.Thr895=
ENST00000330883.9:c.1665G>T	ENSP00000328531.4:p.Thr555=
ENST00000262186.9:c.2685G>T	ENSP00000262186.5:p.Thr895=
ENST00000330883.8:c.1665G>T	ENSP00000328531.4:p.Thr555=
NM_000238.3:c.2685G>T , LRG_288t1:c.2685G>T	NP_000229.1:p.Thr895=
NM_172057.2:c.1665G>T , LRG_288t3:c.1665G>T	NP_742054.1:p.Thr555=
XM_011516185.1:c.2385G>T	XP_011514487.1:p.Thr795=
XM_011516186.1:c.2685G>T	XP_011514488.1:p.Thr895=
XM_011516185.2:c.2385G>T	XP_011514487.1:p.Thr795=
XM_011516186.3:c.2685G>T	XP_011514488.1:p.Thr895=
XM_017012195.1:c.2535G>T	XP_016867684.1:p.Thr845=
XM_017012196.1:c.2508G>T	XP_016867685.1:p.Thr836=
NM_000238.4:c.2685G>T MANE Select	NP_000229.1:p.Thr895=
NM_172057.3:c.1665G>T	NP_742054.1:p.Thr555=