Canonical Allele Identifier: CA369862272

Gene: KCNH2

Linked Data

• dbSNP Id: rs2117003114
• gnomAD v4: 7-150958124-G-A
• MyVariant Identifiers: chr7:g.150655212G>A (hg19) ; chr7:g.150958124G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958124G>A , CM000669.2:g.150958124G>A	GRCh38
NC_000007.13:g.150655212G>A , CM000669.1:g.150655212G>A	GRCh37
NC_000007.12:g.150286145G>A	NCBI36
NG_008916.1:g.24803C>T , LRG_288:g.24803C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1684C>T
ENST00000262186.10:c.851C>T MANE Select	ENSP00000262186.5:p.Ser284Leu
ENST00000262186.9:c.851C>T	ENSP00000262186.5:p.Ser284Leu
ENST00000430723.4:c.503C>T	ENSP00000387657.4:p.Ser168Leu
ENST00000532957.5:n.1074C>T
NM_000238.3:c.851C>T , LRG_288t1:c.851C>T	NP_000229.1:p.Ser284Leu
NM_172056.2:c.851C>T , LRG_288t2:c.851C>T	NP_742053.1:p.Ser284Leu
XM_011516185.1:c.551C>T	XP_011514487.1:p.Ser184Leu
XM_011516186.1:c.851C>T	XP_011514488.1:p.Ser284Leu
XM_011516185.2:c.551C>T	XP_011514487.1:p.Ser184Leu
XM_011516186.3:c.851C>T	XP_011514488.1:p.Ser284Leu
XM_017012195.1:c.701C>T	XP_016867684.1:p.Ser234Leu
XM_017012196.1:c.674C>T	XP_016867685.1:p.Ser225Leu
NM_000238.4:c.851C>T MANE Select	NP_000229.1:p.Ser284Leu