Canonical Allele Identifier: CA369858015

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 2727762
• ClinVar RCV Id: RCV003531440
• MyVariant Identifiers: chr7:g.150648662T>G (hg19) ; chr7:g.150951574T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951574T>G , CM000669.2:g.150951574T>G	GRCh38
NC_000007.13:g.150648662T>G , CM000669.1:g.150648662T>G	GRCh37
NC_000007.12:g.150279595T>G	NCBI36
NG_008916.1:g.31353A>C , LRG_288:g.31353A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.1117A>C
ENST00000684241.1:n.2652A>C
ENST00000262186.10:c.1819A>C MANE Select	ENSP00000262186.5:p.Ile607Leu
ENST00000330883.9:c.799A>C	ENSP00000328531.4:p.Ile267Leu
ENST00000262186.9:c.1819A>C	ENSP00000262186.5:p.Ile607Leu
ENST00000330883.8:c.799A>C	ENSP00000328531.4:p.Ile267Leu
ENST00000430723.4:c.1471A>C	ENSP00000387657.4:p.Ile491Leu
ENST00000461280.1:n.1106A>C
ENST00000473610.5:n.1124A>C
ENST00000532957.5:n.2042A>C
NM_000238.3:c.1819A>C , LRG_288t1:c.1819A>C	NP_000229.1:p.Ile607Leu
NM_001204798.1:c.799A>C	NP_001191727.1:p.Ile267Leu
NM_172056.2:c.1819A>C , LRG_288t2:c.1819A>C	NP_742053.1:p.Ile607Leu
NM_172057.2:c.799A>C , LRG_288t3:c.799A>C	NP_742054.1:p.Ile267Leu
XM_011516185.1:c.1519A>C	XP_011514487.1:p.Ile507Leu
XM_011516186.1:c.1819A>C	XP_011514488.1:p.Ile607Leu
XM_011516185.2:c.1519A>C	XP_011514487.1:p.Ile507Leu
XM_011516186.3:c.1819A>C	XP_011514488.1:p.Ile607Leu
XM_017012195.1:c.1669A>C	XP_016867684.1:p.Ile557Leu
XM_017012196.1:c.1642A>C	XP_016867685.1:p.Ile548Leu
NM_000238.4:c.1819A>C MANE Select	NP_000229.1:p.Ile607Leu
NM_001204798.2:c.799A>C	NP_001191727.1:p.Ile267Leu
NM_172057.3:c.799A>C	NP_742054.1:p.Ile267Leu