Canonical Allele Identifier: CA369862654

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150958230-G-A
• MyVariant Identifiers: chr7:g.150655318G>A (hg19) ; chr7:g.150958230G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958230G>A , CM000669.2:g.150958230G>A	GRCh38
NC_000007.13:g.150655318G>A , CM000669.1:g.150655318G>A	GRCh37
NC_000007.12:g.150286251G>A	NCBI36
NG_008916.1:g.24697C>T , LRG_288:g.24697C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1578C>T
ENST00000262186.10:c.745C>T MANE Select	ENSP00000262186.5:p.Pro249Ser
ENST00000262186.9:c.745C>T	ENSP00000262186.5:p.Pro249Ser
ENST00000430723.4:c.397C>T	ENSP00000387657.4:p.Pro133Ser
ENST00000532957.5:n.968C>T
NM_000238.3:c.745C>T , LRG_288t1:c.745C>T	NP_000229.1:p.Pro249Ser
NM_172056.2:c.745C>T , LRG_288t2:c.745C>T	NP_742053.1:p.Pro249Ser
XM_011516185.1:c.445C>T	XP_011514487.1:p.Pro149Ser
XM_011516186.1:c.745C>T	XP_011514488.1:p.Pro249Ser
XM_011516185.2:c.445C>T	XP_011514487.1:p.Pro149Ser
XM_011516186.3:c.745C>T	XP_011514488.1:p.Pro249Ser
XM_017012195.1:c.595C>T	XP_016867684.1:p.Pro199Ser
XM_017012196.1:c.568C>T	XP_016867685.1:p.Pro190Ser
NM_000238.4:c.745C>T MANE Select	NP_000229.1:p.Pro249Ser