Canonical Allele Identifier: CA369856355
Gene: KCNH2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.150647383C>A (hg19) chr7:g.150950295C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150950295C>A , CM000669.2:g.150950295C>A GRCh38
NC_000007.13:g.150647383C>A , CM000669.1:g.150647383C>A GRCh37
NC_000007.12:g.150278316C>A NCBI36
NG_008916.1:g.32632G>T , LRG_288:g.32632G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000461280.2:n.1569G>T
ENST00000684241.1:n.3104G>T
ENST00000262186.10:c.2271G>T MANE Select ENSP00000262186.5:p.Lys757Asn
ENST00000330883.9:c.1251G>T ENSP00000328531.4:p.Lys417Asn
ENST00000262186.9:c.2271G>T ENSP00000262186.5:p.Lys757Asn
ENST00000330883.8:c.1251G>T ENSP00000328531.4:p.Lys417Asn
ENST00000430723.4:c.1923G>T ENSP00000387657.4:p.Lys641Asn
ENST00000461280.1:n.1558G>T
ENST00000473610.5:n.1903G>T
ENST00000532957.5:n.2494G>T
NM_000238.3:c.2271G>T , LRG_288t1:c.2271G>T NP_000229.1:p.Lys757Asn
NM_001204798.1:c.1251G>T NP_001191727.1:p.Lys417Asn
NM_172056.2:c.2271G>T , LRG_288t2:c.2271G>T NP_742053.1:p.Lys757Asn
NM_172057.2:c.1251G>T , LRG_288t3:c.1251G>T NP_742054.1:p.Lys417Asn
XM_011516185.1:c.1971G>T XP_011514487.1:p.Lys657Asn
XM_011516186.1:c.2271G>T XP_011514488.1:p.Lys757Asn
XM_011516185.2:c.1971G>T XP_011514487.1:p.Lys657Asn
XM_011516186.3:c.2271G>T XP_011514488.1:p.Lys757Asn
XM_017012195.1:c.2121G>T XP_016867684.1:p.Lys707Asn
XM_017012196.1:c.2094G>T XP_016867685.1:p.Lys698Asn
NM_000238.4:c.2271G>T MANE Select NP_000229.1:p.Lys757Asn
NM_001204798.2:c.1251G>T NP_001191727.1:p.Lys417Asn
NM_172057.3:c.1251G>T NP_742054.1:p.Lys417Asn
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