Canonical Allele Identifier: CA369853254

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 924479
• ClinVar RCV Id: RCV001843263
• dbSNP Id: rs1800963184
• MyVariant Identifiers: chr7:g.150644802G>A (hg19) ; chr7:g.150947714G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947714G>A , CM000669.2:g.150947714G>A	GRCh38
NC_000007.13:g.150644802G>A , CM000669.1:g.150644802G>A	GRCh37
NC_000007.12:g.150275735G>A	NCBI36
NG_008916.1:g.35213C>T , LRG_288:g.35213C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3690C>T
ENST00000262186.10:c.2857C>T MANE Select	ENSP00000262186.5:p.Leu953Phe
ENST00000330883.9:c.1837C>T	ENSP00000328531.4:p.Leu613Phe
ENST00000262186.9:c.2857C>T	ENSP00000262186.5:p.Leu953Phe
ENST00000330883.8:c.1837C>T	ENSP00000328531.4:p.Leu613Phe
NM_000238.3:c.2857C>T , LRG_288t1:c.2857C>T	NP_000229.1:p.Leu953Phe
NM_172057.2:c.1837C>T , LRG_288t3:c.1837C>T	NP_742054.1:p.Leu613Phe
XM_011516185.1:c.2557C>T	XP_011514487.1:p.Leu853Phe
XM_011516186.1:c.2693-23C>T	XP_011514488.1:n.2693-23C>T
XM_011516185.2:c.2557C>T	XP_011514487.1:p.Leu853Phe
XM_011516186.3:c.2693-23C>T	XP_011514488.1:n.2693-23C>T
XM_017012195.1:c.2707C>T	XP_016867684.1:p.Leu903Phe
XM_017012196.1:c.2680C>T	XP_016867685.1:p.Leu894Phe
NM_000238.4:c.2857C>T MANE Select	NP_000229.1:p.Leu953Phe
NM_172057.3:c.1837C>T	NP_742054.1:p.Leu613Phe