Canonical Allele Identifier: CA071217

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150647339G>A (hg19) ; chr7:g.150950251G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950251G>A , CM000669.2:g.150950251G>A	GRCh38
NC_000007.13:g.150647339G>A , CM000669.1:g.150647339G>A	GRCh37
NC_000007.12:g.150278272G>A	NCBI36
NG_008916.1:g.32676C>T , LRG_288:g.32676C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1613C>T
ENST00000684241.1:n.3148C>T
ENST00000262186.10:c.2315C>T MANE Select	ENSP00000262186.5:p.Ala772Val
ENST00000330883.9:c.1295C>T	ENSP00000328531.4:p.Ala432Val
ENST00000262186.9:c.2315C>T	ENSP00000262186.5:p.Ala772Val
ENST00000330883.8:c.1295C>T	ENSP00000328531.4:p.Ala432Val
ENST00000430723.4:c.1967C>T	ENSP00000387657.4:p.Ala656Val
ENST00000461280.1:n.1602C>T
ENST00000473610.5:n.1947C>T
ENST00000532957.5:n.2538C>T
NM_000238.3:c.2315C>T , LRG_288t1:c.2315C>T	NP_000229.1:p.Ala772Val
NM_001204798.1:c.1295C>T	NP_001191727.1:p.Ala432Val
NM_172056.2:c.2315C>T , LRG_288t2:c.2315C>T	NP_742053.1:p.Ala772Val
NM_172057.2:c.1295C>T , LRG_288t3:c.1295C>T	NP_742054.1:p.Ala432Val
XM_011516185.1:c.2015C>T	XP_011514487.1:p.Ala672Val
XM_011516186.1:c.2315C>T	XP_011514488.1:p.Ala772Val
XM_011516185.2:c.2015C>T	XP_011514487.1:p.Ala672Val
XM_011516186.3:c.2315C>T	XP_011514488.1:p.Ala772Val
XM_017012195.1:c.2165C>T	XP_016867684.1:p.Ala722Val
XM_017012196.1:c.2138C>T	XP_016867685.1:p.Ala713Val
NM_000238.4:c.2315C>T MANE Select	NP_000229.1:p.Ala772Val
NM_001204798.2:c.1295C>T	NP_001191727.1:p.Ala432Val
NM_172057.3:c.1295C>T	NP_742054.1:p.Ala432Val