Canonical Allele Identifier: CA369857871
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2121024
ClinVar RCV Id: RCV003025370
MyVariant Identifiers: chr7:g.150648576G>T (hg19) chr7:g.150951488G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150951488G>T , CM000669.2:g.150951488G>T GRCh38
NC_000007.13:g.150648576G>T , CM000669.1:g.150648576G>T GRCh37
NC_000007.12:g.150279509G>T NCBI36
NG_008916.1:g.31439C>A , LRG_288:g.31439C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000461280.2:n.1203C>A
ENST00000683359.1:n.29C>A
ENST00000684241.1:n.2738C>A
ENST00000262186.10:c.1905C>A MANE Select ENSP00000262186.5:p.Asn635Lys
ENST00000330883.9:c.885C>A ENSP00000328531.4:p.Asn295Lys
ENST00000262186.9:c.1905C>A ENSP00000262186.5:p.Asn635Lys
ENST00000330883.8:c.885C>A ENSP00000328531.4:p.Asn295Lys
ENST00000430723.4:c.1557C>A ENSP00000387657.4:p.Asn519Lys
ENST00000461280.1:n.1192C>A
ENST00000473610.5:n.1210C>A
ENST00000532957.5:n.2128C>A
NM_000238.3:c.1905C>A , LRG_288t1:c.1905C>A NP_000229.1:p.Asn635Lys
NM_001204798.1:c.885C>A NP_001191727.1:p.Asn295Lys
NM_172056.2:c.1905C>A , LRG_288t2:c.1905C>A NP_742053.1:p.Asn635Lys
NM_172057.2:c.885C>A , LRG_288t3:c.885C>A NP_742054.1:p.Asn295Lys
XM_011516185.1:c.1605C>A XP_011514487.1:p.Asn535Lys
XM_011516186.1:c.1905C>A XP_011514488.1:p.Asn635Lys
XM_011516185.2:c.1605C>A XP_011514487.1:p.Asn535Lys
XM_011516186.3:c.1905C>A XP_011514488.1:p.Asn635Lys
XM_017012195.1:c.1755C>A XP_016867684.1:p.Asn585Lys
XM_017012196.1:c.1728C>A XP_016867685.1:p.Asn576Lys
NM_000238.4:c.1905C>A MANE Select NP_000229.1:p.Asn635Lys
NM_001204798.2:c.885C>A NP_001191727.1:p.Asn295Lys
NM_172057.3:c.885C>A NP_742054.1:p.Asn295Lys
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