Canonical Allele Identifier: CA369857755

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150951104-G-T
• MyVariant Identifiers: chr7:g.150648192G>T (hg19) ; chr7:g.150951104G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951104G>T , CM000669.2:g.150951104G>T	GRCh38
NC_000007.13:g.150648192G>T , CM000669.1:g.150648192G>T	GRCh37
NC_000007.12:g.150279125G>T	NCBI36
NG_008916.1:g.31823C>A , LRG_288:g.31823C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1260C>A
ENST00000683359.1:n.86C>A
ENST00000684241.1:n.2795C>A
ENST00000262186.10:c.1962C>A MANE Select	ENSP00000262186.5:p.Ser654Arg
ENST00000330883.9:c.942C>A	ENSP00000328531.4:p.Ser314Arg
ENST00000262186.9:c.1962C>A	ENSP00000262186.5:p.Ser654Arg
ENST00000330883.8:c.942C>A	ENSP00000328531.4:p.Ser314Arg
ENST00000430723.4:c.1614C>A	ENSP00000387657.4:p.Ser538Arg
ENST00000461280.1:n.1249C>A
ENST00000473610.5:n.1594C>A
ENST00000532957.5:n.2185C>A
NM_000238.3:c.1962C>A , LRG_288t1:c.1962C>A	NP_000229.1:p.Ser654Arg
NM_001204798.1:c.942C>A	NP_001191727.1:p.Ser314Arg
NM_172056.2:c.1962C>A , LRG_288t2:c.1962C>A	NP_742053.1:p.Ser654Arg
NM_172057.2:c.942C>A , LRG_288t3:c.942C>A	NP_742054.1:p.Ser314Arg
XM_011516185.1:c.1662C>A	XP_011514487.1:p.Ser554Arg
XM_011516186.1:c.1962C>A	XP_011514488.1:p.Ser654Arg
XM_011516185.2:c.1662C>A	XP_011514487.1:p.Ser554Arg
XM_011516186.3:c.1962C>A	XP_011514488.1:p.Ser654Arg
XM_017012195.1:c.1812C>A	XP_016867684.1:p.Ser604Arg
XM_017012196.1:c.1785C>A	XP_016867685.1:p.Ser595Arg
NM_000238.4:c.1962C>A MANE Select	NP_000229.1:p.Ser654Arg
NM_001204798.2:c.942C>A	NP_001191727.1:p.Ser314Arg
NM_172057.3:c.942C>A	NP_742054.1:p.Ser314Arg