Canonical Allele Identifier: CA369858016

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150648664G>A (hg19) ; chr7:g.150951576G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951576G>A , CM000669.2:g.150951576G>A	GRCh38
NC_000007.13:g.150648664G>A , CM000669.1:g.150648664G>A	GRCh37
NC_000007.12:g.150279597G>A	NCBI36
NG_008916.1:g.31351C>T , LRG_288:g.31351C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1115C>T
ENST00000684241.1:n.2650C>T
ENST00000262186.10:c.1817C>T MANE Select	ENSP00000262186.5:p.Ser606Phe
ENST00000330883.9:c.797C>T	ENSP00000328531.4:p.Ser266Phe
ENST00000262186.9:c.1817C>T	ENSP00000262186.5:p.Ser606Phe
ENST00000330883.8:c.797C>T	ENSP00000328531.4:p.Ser266Phe
ENST00000430723.4:c.1469C>T	ENSP00000387657.4:p.Ser490Phe
ENST00000461280.1:n.1104C>T
ENST00000473610.5:n.1122C>T
ENST00000532957.5:n.2040C>T
NM_000238.3:c.1817C>T , LRG_288t1:c.1817C>T	NP_000229.1:p.Ser606Phe
NM_001204798.1:c.797C>T	NP_001191727.1:p.Ser266Phe
NM_172056.2:c.1817C>T , LRG_288t2:c.1817C>T	NP_742053.1:p.Ser606Phe
NM_172057.2:c.797C>T , LRG_288t3:c.797C>T	NP_742054.1:p.Ser266Phe
XM_011516185.1:c.1517C>T	XP_011514487.1:p.Ser506Phe
XM_011516186.1:c.1817C>T	XP_011514488.1:p.Ser606Phe
XM_011516185.2:c.1517C>T	XP_011514487.1:p.Ser506Phe
XM_011516186.3:c.1817C>T	XP_011514488.1:p.Ser606Phe
XM_017012195.1:c.1667C>T	XP_016867684.1:p.Ser556Phe
XM_017012196.1:c.1640C>T	XP_016867685.1:p.Ser547Phe
NM_000238.4:c.1817C>T MANE Select	NP_000229.1:p.Ser606Phe
NM_001204798.2:c.797C>T	NP_001191727.1:p.Ser266Phe
NM_172057.3:c.797C>T	NP_742054.1:p.Ser266Phe