Canonical Allele Identifier: CA369857877

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150648581T>A (hg19) ; chr7:g.150951493T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951493T>A , CM000669.2:g.150951493T>A	GRCh38
NC_000007.13:g.150648581T>A , CM000669.1:g.150648581T>A	GRCh37
NC_000007.12:g.150279514T>A	NCBI36
NG_008916.1:g.31434A>T , LRG_288:g.31434A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1198A>T
ENST00000683359.1:n.24A>T
ENST00000684241.1:n.2733A>T
ENST00000262186.10:c.1900A>T MANE Select	ENSP00000262186.5:p.Thr634Ser
ENST00000330883.9:c.880A>T	ENSP00000328531.4:p.Thr294Ser
ENST00000262186.9:c.1900A>T	ENSP00000262186.5:p.Thr634Ser
ENST00000330883.8:c.880A>T	ENSP00000328531.4:p.Thr294Ser
ENST00000430723.4:c.1552A>T	ENSP00000387657.4:p.Thr518Ser
ENST00000461280.1:n.1187A>T
ENST00000473610.5:n.1205A>T
ENST00000532957.5:n.2123A>T
NM_000238.3:c.1900A>T , LRG_288t1:c.1900A>T	NP_000229.1:p.Thr634Ser
NM_001204798.1:c.880A>T	NP_001191727.1:p.Thr294Ser
NM_172056.2:c.1900A>T , LRG_288t2:c.1900A>T	NP_742053.1:p.Thr634Ser
NM_172057.2:c.880A>T , LRG_288t3:c.880A>T	NP_742054.1:p.Thr294Ser
XM_011516185.1:c.1600A>T	XP_011514487.1:p.Thr534Ser
XM_011516186.1:c.1900A>T	XP_011514488.1:p.Thr634Ser
XM_011516185.2:c.1600A>T	XP_011514487.1:p.Thr534Ser
XM_011516186.3:c.1900A>T	XP_011514488.1:p.Thr634Ser
XM_017012195.1:c.1750A>T	XP_016867684.1:p.Thr584Ser
XM_017012196.1:c.1723A>T	XP_016867685.1:p.Thr575Ser
NM_000238.4:c.1900A>T MANE Select	NP_000229.1:p.Thr634Ser
NM_001204798.2:c.880A>T	NP_001191727.1:p.Thr294Ser
NM_172057.3:c.880A>T	NP_742054.1:p.Thr294Ser