Canonical Allele Identifier: CA026760

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 2145897
• ClinVar RCV Id: RCV003065266 ; RCV003591979
• dbSNP Id: rs760372805
• ExAC: 7:150654450 T / A
• gnomAD v2: 7-150654450-T-A
• gnomAD v4: 7-150957362-T-A
• MyVariant Identifiers: chr7:g.150654450T>A (hg19) ; chr7:g.150957362T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150957362T>A , CM000669.2:g.150957362T>A	GRCh38
NC_000007.13:g.150654450T>A , CM000669.1:g.150654450T>A	GRCh37
NC_000007.12:g.150285383T>A	NCBI36
NG_008916.1:g.25565A>T , LRG_288:g.25565A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1890A>T
ENST00000262186.10:c.1057A>T MANE Select	ENSP00000262186.5:p.Thr353Ser
ENST00000262186.9:c.1057A>T	ENSP00000262186.5:p.Thr353Ser
ENST00000430723.4:c.709A>T	ENSP00000387657.4:p.Thr237Ser
ENST00000532957.5:n.1280A>T
NM_000238.3:c.1057A>T , LRG_288t1:c.1057A>T	NP_000229.1:p.Thr353Ser
NM_172056.2:c.1057A>T , LRG_288t2:c.1057A>T	NP_742053.1:p.Thr353Ser
XM_011516185.1:c.757A>T	XP_011514487.1:p.Thr253Ser
XM_011516186.1:c.1057A>T	XP_011514488.1:p.Thr353Ser
XM_011516185.2:c.757A>T	XP_011514487.1:p.Thr253Ser
XM_011516186.3:c.1057A>T	XP_011514488.1:p.Thr353Ser
XM_017012195.1:c.907A>T	XP_016867684.1:p.Thr303Ser
XM_017012196.1:c.880A>T	XP_016867685.1:p.Thr294Ser
NM_000238.4:c.1057A>T MANE Select	NP_000229.1:p.Thr353Ser