Canonical Allele Identifier: CA369863692

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1879703
• ClinVar RCV Id: RCV002512348 ; RCV003591969
• gnomAD v4: 7-150959625-G-A
• MyVariant Identifiers: chr7:g.150656713G>A (hg19) ; chr7:g.150959625G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150959625G>A , CM000669.2:g.150959625G>A	GRCh38
NC_000007.13:g.150656713G>A , CM000669.1:g.150656713G>A	GRCh37
NC_000007.12:g.150287646G>A	NCBI36
NG_008916.1:g.23302C>T , LRG_288:g.23302C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1252C>T
ENST00000262186.10:c.419C>T MANE Select	ENSP00000262186.5:p.Ser140Phe
ENST00000262186.9:c.419C>T	ENSP00000262186.5:p.Ser140Phe
ENST00000430723.4:c.234+8C>T	ENSP00000387657.4:n.234+8C>T
ENST00000532957.5:n.642C>T
NM_000238.3:c.419C>T , LRG_288t1:c.419C>T	NP_000229.1:p.Ser140Phe
NM_172056.2:c.419C>T , LRG_288t2:c.419C>T	NP_742053.1:p.Ser140Phe
XM_011516185.1:c.119C>T	XP_011514487.1:p.Ser40Phe
XM_011516186.1:c.419C>T	XP_011514488.1:p.Ser140Phe
XM_011516185.2:c.119C>T	XP_011514487.1:p.Ser40Phe
XM_011516186.3:c.419C>T	XP_011514488.1:p.Ser140Phe
XM_017012195.1:c.269C>T	XP_016867684.1:p.Ser90Phe
XM_017012196.1:c.242C>T	XP_016867685.1:p.Ser81Phe
NM_000238.4:c.419C>T MANE Select	NP_000229.1:p.Ser140Phe