Canonical Allele Identifier: CA458871508

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1052578
• ClinVar RCV Id: RCV001360793 ; RCV002413851
• dbSNP Id: rs1413887234
• gnomAD v4: 7-150951569-C-T
• MyVariant Identifiers: chr7:g.150648657C>T (hg19) ; chr7:g.150951569C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951569C>T , CM000669.2:g.150951569C>T	GRCh38
NC_000007.13:g.150648657C>T , CM000669.1:g.150648657C>T	GRCh37
NC_000007.12:g.150279590C>T	NCBI36
NG_008916.1:g.31358G>A , LRG_288:g.31358G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1122G>A
ENST00000684241.1:n.2657G>A
ENST00000262186.10:c.1824G>A MANE Select	ENSP00000262186.5:p.Lys608=
ENST00000330883.9:c.804G>A	ENSP00000328531.4:p.Lys268=
ENST00000262186.9:c.1824G>A	ENSP00000262186.5:p.Lys608=
ENST00000330883.8:c.804G>A	ENSP00000328531.4:p.Lys268=
ENST00000430723.4:c.1476G>A	ENSP00000387657.4:p.Lys492=
ENST00000461280.1:n.1111G>A
ENST00000473610.5:n.1129G>A
ENST00000532957.5:n.2047G>A
NM_000238.3:c.1824G>A , LRG_288t1:c.1824G>A	NP_000229.1:p.Lys608=
NM_001204798.1:c.804G>A	NP_001191727.1:p.Lys268=
NM_172056.2:c.1824G>A , LRG_288t2:c.1824G>A	NP_742053.1:p.Lys608=
NM_172057.2:c.804G>A , LRG_288t3:c.804G>A	NP_742054.1:p.Lys268=
XM_011516185.1:c.1524G>A	XP_011514487.1:p.Lys508=
XM_011516186.1:c.1824G>A	XP_011514488.1:p.Lys608=
XM_011516185.2:c.1524G>A	XP_011514487.1:p.Lys508=
XM_011516186.3:c.1824G>A	XP_011514488.1:p.Lys608=
XM_017012195.1:c.1674G>A	XP_016867684.1:p.Lys558=
XM_017012196.1:c.1647G>A	XP_016867685.1:p.Lys549=
NM_000238.4:c.1824G>A MANE Select	NP_000229.1:p.Lys608=
NM_001204798.2:c.804G>A	NP_001191727.1:p.Lys268=
NM_172057.3:c.804G>A	NP_742054.1:p.Lys268=