Canonical Allele Identifier: CA16605176
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 379451
ClinVar RCV Id: RCV000427208 RCV000460573
dbSNP Id: rs1057520598
MyVariant Identifiers: chr7:g.150656826T>C (hg19) chr7:g.150959738T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150959738T>C , CM000669.2:g.150959738T>C GRCh38
NC_000007.13:g.150656826T>C , CM000669.1:g.150656826T>C GRCh37
NC_000007.12:g.150287759T>C NCBI36
NG_008916.1:g.23189A>G , LRG_288:g.23189A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000684241.1:n.1139A>G
ENST00000262186.10:c.308-2A>G MANE Select ENSP00000262186.5:n.308-2A>G
ENST00000262186.9:c.308-2A>G ENSP00000262186.5:n.308-2A>G
ENST00000430723.4:c.131-2A>G ENSP00000387657.4:n.131-2A>G
ENST00000532957.5:n.531-2A>G
NM_000238.3:c.308-2A>G , LRG_288t1:c.308-2A>G NP_000229.1:n.308-2A>G
NM_172056.2:c.308-2A>G , LRG_288t2:c.308-2A>G NP_742053.1:n.308-2A>G
XM_011516185.1:c.8-2A>G XP_011514487.1:n.8-2A>G
XM_011516186.1:c.308-2A>G XP_011514488.1:n.308-2A>G
XM_011516185.2:c.8-2A>G XP_011514487.1:n.8-2A>G
XM_011516186.3:c.308-2A>G XP_011514488.1:n.308-2A>G
XM_017012195.1:c.158-2A>G XP_016867684.1:n.158-2A>G
XM_017012196.1:c.131-2A>G XP_016867685.1:n.131-2A>G
NM_000238.4:c.308-2A>G MANE Select NP_000229.1:n.308-2A>G
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