Canonical Allele Identifier: CA369863028

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150958340-A-T
• MyVariant Identifiers: chr7:g.150655428A>T (hg19) ; chr7:g.150958340A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958340A>T , CM000669.2:g.150958340A>T	GRCh38
NC_000007.13:g.150655428A>T , CM000669.1:g.150655428A>T	GRCh37
NC_000007.12:g.150286361A>T	NCBI36
NG_008916.1:g.24587T>A , LRG_288:g.24587T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1468T>A
ENST00000262186.10:c.635T>A MANE Select	ENSP00000262186.5:p.Leu212Gln
ENST00000262186.9:c.635T>A	ENSP00000262186.5:p.Leu212Gln
ENST00000430723.4:c.287T>A	ENSP00000387657.4:p.Leu96Gln
ENST00000532957.5:n.858T>A
NM_000238.3:c.635T>A , LRG_288t1:c.635T>A	NP_000229.1:p.Leu212Gln
NM_172056.2:c.635T>A , LRG_288t2:c.635T>A	NP_742053.1:p.Leu212Gln
XM_011516185.1:c.335T>A	XP_011514487.1:p.Leu112Gln
XM_011516186.1:c.635T>A	XP_011514488.1:p.Leu212Gln
XM_011516185.2:c.335T>A	XP_011514487.1:p.Leu112Gln
XM_011516186.3:c.635T>A	XP_011514488.1:p.Leu212Gln
XM_017012195.1:c.485T>A	XP_016867684.1:p.Leu162Gln
XM_017012196.1:c.458T>A	XP_016867685.1:p.Leu153Gln
NM_000238.4:c.635T>A MANE Select	NP_000229.1:p.Leu212Gln