Canonical Allele Identifier: CA006157

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 200405
• ClinVar RCV Id: RCV000181834 ; RCV001852292
• dbSNP Id: rs794728381
• gnomAD v4: 7-150951040-G-A
• COSMIC: COSM3260993 ; COSM3260994 ; COSM4360771
• MyVariant Identifiers: chr7:g.150648128G>A (hg19) ; chr7:g.150951040G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951040G>A , CM000669.2:g.150951040G>A	GRCh38
NC_000007.13:g.150648128G>A , CM000669.1:g.150648128G>A	GRCh37
NC_000007.12:g.150279061G>A	NCBI36
NG_008916.1:g.31887C>T , LRG_288:g.31887C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1324C>T
ENST00000683359.1:n.150C>T
ENST00000684241.1:n.2859C>T
ENST00000262186.10:c.2026C>T MANE Select	ENSP00000262186.5:p.Gln676Ter
ENST00000330883.9:c.1006C>T	ENSP00000328531.4:p.Gln336Ter
ENST00000262186.9:c.2026C>T	ENSP00000262186.5:p.Gln676Ter
ENST00000330883.8:c.1006C>T	ENSP00000328531.4:p.Gln336Ter
ENST00000430723.4:c.1678C>T	ENSP00000387657.4:p.Gln560Ter
ENST00000461280.1:n.1313C>T
ENST00000473610.5:n.1658C>T
ENST00000532957.5:n.2249C>T
NM_000238.3:c.2026C>T , LRG_288t1:c.2026C>T	NP_000229.1:p.Gln676Ter
NM_001204798.1:c.1006C>T	NP_001191727.1:p.Gln336Ter
NM_172056.2:c.2026C>T , LRG_288t2:c.2026C>T	NP_742053.1:p.Gln676Ter
NM_172057.2:c.1006C>T , LRG_288t3:c.1006C>T	NP_742054.1:p.Gln336Ter
XM_011516185.1:c.1726C>T	XP_011514487.1:p.Gln576Ter
XM_011516186.1:c.2026C>T	XP_011514488.1:p.Gln676Ter
XM_011516185.2:c.1726C>T	XP_011514487.1:p.Gln576Ter
XM_011516186.3:c.2026C>T	XP_011514488.1:p.Gln676Ter
XM_017012195.1:c.1876C>T	XP_016867684.1:p.Gln626Ter
XM_017012196.1:c.1849C>T	XP_016867685.1:p.Gln617Ter
NM_000238.4:c.2026C>T MANE Select	NP_000229.1:p.Gln676Ter
NM_001204798.2:c.1006C>T	NP_001191727.1:p.Gln336Ter
NM_172057.3:c.1006C>T	NP_742054.1:p.Gln336Ter