Canonical Allele Identifier: CA029831

Gene: KCNH2

Linked Data

• dbSNP Id: rs767800506
• ExAC: 7:150648544 A / G
• gnomAD v4: 7-150951456-A-G
• MyVariant Identifiers: chr7:g.150648544A>G (hg19) ; chr7:g.150951456A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951456A>G , CM000669.2:g.150951456A>G	GRCh38
NC_000007.13:g.150648544A>G , CM000669.1:g.150648544A>G	GRCh37
NC_000007.12:g.150279477A>G	NCBI36
NG_008916.1:g.31471T>C , LRG_288:g.31471T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.1235T>C
ENST00000683359.1:n.61T>C
ENST00000684241.1:n.2770T>C
ENST00000262186.10:c.1937T>C MANE Select	ENSP00000262186.5:p.Leu646Pro
ENST00000330883.9:c.917T>C	ENSP00000328531.4:p.Leu306Pro
ENST00000262186.9:c.1937T>C	ENSP00000262186.5:p.Leu646Pro
ENST00000330883.8:c.917T>C	ENSP00000328531.4:p.Leu306Pro
ENST00000430723.4:c.1589T>C	ENSP00000387657.4:p.Leu530Pro
ENST00000461280.1:n.1224T>C
ENST00000473610.5:n.1242T>C
ENST00000532957.5:n.2160T>C
NM_000238.3:c.1937T>C , LRG_288t1:c.1937T>C	NP_000229.1:p.Leu646Pro
NM_001204798.1:c.917T>C	NP_001191727.1:p.Leu306Pro
NM_172056.2:c.1937T>C , LRG_288t2:c.1937T>C	NP_742053.1:p.Leu646Pro
NM_172057.2:c.917T>C , LRG_288t3:c.917T>C	NP_742054.1:p.Leu306Pro
XM_011516185.1:c.1637T>C	XP_011514487.1:p.Leu546Pro
XM_011516186.1:c.1937T>C	XP_011514488.1:p.Leu646Pro
XM_011516185.2:c.1637T>C	XP_011514487.1:p.Leu546Pro
XM_011516186.3:c.1937T>C	XP_011514488.1:p.Leu646Pro
XM_017012195.1:c.1787T>C	XP_016867684.1:p.Leu596Pro
XM_017012196.1:c.1760T>C	XP_016867685.1:p.Leu587Pro
NM_000238.4:c.1937T>C MANE Select	NP_000229.1:p.Leu646Pro
NM_001204798.2:c.917T>C	NP_001191727.1:p.Leu306Pro
NM_172057.3:c.917T>C	NP_742054.1:p.Leu306Pro