Canonical Allele Identifier: CA369862628

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1442675
• ClinVar RCV Id: RCV001953111 ; RCV002388907 ; RCV003401938
• dbSNP Id: rs1801446130
• gnomAD v3: 7-150958223-G-A
• gnomAD v4: 7-150958223-G-A
• MyVariant Identifiers: chr7:g.150655311G>A (hg19) ; chr7:g.150958223G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958223G>A , CM000669.2:g.150958223G>A	GRCh38
NC_000007.13:g.150655311G>A , CM000669.1:g.150655311G>A	GRCh37
NC_000007.12:g.150286244G>A	NCBI36
NG_008916.1:g.24704C>T , LRG_288:g.24704C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1585C>T
ENST00000262186.10:c.752C>T MANE Select	ENSP00000262186.5:p.Pro251Leu
ENST00000262186.9:c.752C>T	ENSP00000262186.5:p.Pro251Leu
ENST00000430723.4:c.404C>T	ENSP00000387657.4:p.Pro135Leu
ENST00000532957.5:n.975C>T
NM_000238.3:c.752C>T , LRG_288t1:c.752C>T	NP_000229.1:p.Pro251Leu
NM_172056.2:c.752C>T , LRG_288t2:c.752C>T	NP_742053.1:p.Pro251Leu
XM_011516185.1:c.452C>T	XP_011514487.1:p.Pro151Leu
XM_011516186.1:c.752C>T	XP_011514488.1:p.Pro251Leu
XM_011516185.2:c.452C>T	XP_011514487.1:p.Pro151Leu
XM_011516186.3:c.752C>T	XP_011514488.1:p.Pro251Leu
XM_017012195.1:c.602C>T	XP_016867684.1:p.Pro201Leu
XM_017012196.1:c.575C>T	XP_016867685.1:p.Pro192Leu
NM_000238.4:c.752C>T MANE Select	NP_000229.1:p.Pro251Leu