Canonical Allele Identifier: CA369857889

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 456898
• ClinVar RCV Id: RCV001755799
• dbSNP Id: rs1554425720
• gnomAD v4: 7-150951501-G-A
• MyVariant Identifiers: chr7:g.150648589G>A (hg19) ; chr7:g.150951501G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951501G>A , CM000669.2:g.150951501G>A	GRCh38
NC_000007.13:g.150648589G>A , CM000669.1:g.150648589G>A	GRCh37
NC_000007.12:g.150279522G>A	NCBI36
NG_008916.1:g.31426C>T , LRG_288:g.31426C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.1190C>T
ENST00000683359.1:n.16C>T
ENST00000684241.1:n.2725C>T
ENST00000262186.10:c.1892C>T MANE Select	ENSP00000262186.5:p.Ser631Phe
ENST00000330883.9:c.872C>T	ENSP00000328531.4:p.Ser291Phe
ENST00000262186.9:c.1892C>T	ENSP00000262186.5:p.Ser631Phe
ENST00000330883.8:c.872C>T	ENSP00000328531.4:p.Ser291Phe
ENST00000430723.4:c.1544C>T	ENSP00000387657.4:p.Ser515Phe
ENST00000461280.1:n.1179C>T
ENST00000473610.5:n.1197C>T
ENST00000532957.5:n.2115C>T
NM_000238.3:c.1892C>T , LRG_288t1:c.1892C>T	NP_000229.1:p.Ser631Phe
NM_001204798.1:c.872C>T	NP_001191727.1:p.Ser291Phe
NM_172056.2:c.1892C>T , LRG_288t2:c.1892C>T	NP_742053.1:p.Ser631Phe
NM_172057.2:c.872C>T , LRG_288t3:c.872C>T	NP_742054.1:p.Ser291Phe
XM_011516185.1:c.1592C>T	XP_011514487.1:p.Ser531Phe
XM_011516186.1:c.1892C>T	XP_011514488.1:p.Ser631Phe
XM_011516185.2:c.1592C>T	XP_011514487.1:p.Ser531Phe
XM_011516186.3:c.1892C>T	XP_011514488.1:p.Ser631Phe
XM_017012195.1:c.1742C>T	XP_016867684.1:p.Ser581Phe
XM_017012196.1:c.1715C>T	XP_016867685.1:p.Ser572Phe
NM_000238.4:c.1892C>T MANE Select	NP_000229.1:p.Ser631Phe
NM_001204798.2:c.872C>T	NP_001191727.1:p.Ser291Phe
NM_172057.3:c.872C>T	NP_742054.1:p.Ser291Phe