Canonical Allele Identifier: CA369862754

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150958266-G-A
• MyVariant Identifiers: chr7:g.150655354G>A (hg19) ; chr7:g.150958266G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958266G>A , CM000669.2:g.150958266G>A	GRCh38
NC_000007.13:g.150655354G>A , CM000669.1:g.150655354G>A	GRCh37
NC_000007.12:g.150286287G>A	NCBI36
NG_008916.1:g.24661C>T , LRG_288:g.24661C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1542C>T
ENST00000262186.10:c.709C>T MANE Select	ENSP00000262186.5:p.Pro237Ser
ENST00000262186.9:c.709C>T	ENSP00000262186.5:p.Pro237Ser
ENST00000430723.4:c.361C>T	ENSP00000387657.4:p.Pro121Ser
ENST00000532957.5:n.932C>T
NM_000238.3:c.709C>T , LRG_288t1:c.709C>T	NP_000229.1:p.Pro237Ser
NM_172056.2:c.709C>T , LRG_288t2:c.709C>T	NP_742053.1:p.Pro237Ser
XM_011516185.1:c.409C>T	XP_011514487.1:p.Pro137Ser
XM_011516186.1:c.709C>T	XP_011514488.1:p.Pro237Ser
XM_011516185.2:c.409C>T	XP_011514487.1:p.Pro137Ser
XM_011516186.3:c.709C>T	XP_011514488.1:p.Pro237Ser
XM_017012195.1:c.559C>T	XP_016867684.1:p.Pro187Ser
XM_017012196.1:c.532C>T	XP_016867685.1:p.Pro178Ser
NM_000238.4:c.709C>T MANE Select	NP_000229.1:p.Pro237Ser