Canonical Allele Identifier: CA369862956

Gene: KCNH2

Linked Data

• dbSNP Id: rs1455248452
• gnomAD v2: 7-150655409-C-A
• gnomAD v4: 7-150958321-C-A
• MyVariant Identifiers: chr7:g.150655409C>A (hg19) ; chr7:g.150958321C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958321C>A , CM000669.2:g.150958321C>A	GRCh38
NC_000007.13:g.150655409C>A , CM000669.1:g.150655409C>A	GRCh37
NC_000007.12:g.150286342C>A	NCBI36
NG_008916.1:g.24606G>T , LRG_288:g.24606G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1487G>T
ENST00000262186.10:c.654G>T MANE Select	ENSP00000262186.5:p.Met218Ile
ENST00000262186.9:c.654G>T	ENSP00000262186.5:p.Met218Ile
ENST00000430723.4:c.306G>T	ENSP00000387657.4:p.Met102Ile
ENST00000532957.5:n.877G>T
NM_000238.3:c.654G>T , LRG_288t1:c.654G>T	NP_000229.1:p.Met218Ile
NM_172056.2:c.654G>T , LRG_288t2:c.654G>T	NP_742053.1:p.Met218Ile
XM_011516185.1:c.354G>T	XP_011514487.1:p.Met118Ile
XM_011516186.1:c.654G>T	XP_011514488.1:p.Met218Ile
XM_011516185.2:c.354G>T	XP_011514487.1:p.Met118Ile
XM_011516186.3:c.654G>T	XP_011514488.1:p.Met218Ile
XM_017012195.1:c.504G>T	XP_016867684.1:p.Met168Ile
XM_017012196.1:c.477G>T	XP_016867685.1:p.Met159Ile
NM_000238.4:c.654G>T MANE Select	NP_000229.1:p.Met218Ile