Canonical Allele Identifier: CA037772

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 586073
• ClinVar RCV Id: RCV000712079 ; RCV000801456
• dbSNP Id: rs761811244
• ExAC: 7:150644110 G / A
• gnomAD v2: 7-150644110-G-A
• gnomAD v4: 7-150947022-G-A
• MyVariant Identifiers: chr7:g.150644110G>A (hg19) ; chr7:g.150947022G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947022G>A , CM000669.2:g.150947022G>A	GRCh38
NC_000007.13:g.150644110G>A , CM000669.1:g.150644110G>A	GRCh37
NC_000007.12:g.150275043G>A	NCBI36
NG_008916.1:g.35905C>T , LRG_288:g.35905C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.4018C>T
ENST00000262186.10:c.3185C>T MANE Select	ENSP00000262186.5:p.Thr1062Ile
ENST00000330883.9:c.2165C>T	ENSP00000328531.4:p.Thr722Ile
ENST00000262186.9:c.3185C>T	ENSP00000262186.5:p.Thr1062Ile
ENST00000330883.8:c.2165C>T	ENSP00000328531.4:p.Thr722Ile
NM_000238.3:c.3185C>T , LRG_288t1:c.3185C>T	NP_000229.1:p.Thr1062Ile
NM_172057.2:c.2165C>T , LRG_288t3:c.2165C>T	NP_742054.1:p.Thr722Ile
XM_011516185.1:c.2885C>T	XP_011514487.1:p.Thr962Ile
XM_011516185.2:c.2885C>T	XP_011514487.1:p.Thr962Ile
XM_017012195.1:c.3035C>T	XP_016867684.1:p.Thr1012Ile
XM_017012196.1:c.3008C>T	XP_016867685.1:p.Thr1003Ile
NM_000238.4:c.3185C>T MANE Select	NP_000229.1:p.Thr1062Ile
NM_172057.3:c.2165C>T	NP_742054.1:p.Thr722Ile