Canonical Allele Identifier: CA16612128
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 413335
ClinVar RCV Id: RCV000461252 RCV001159791 RCV001841379
dbSNP Id: rs1060503994
gnomAD v2: 7-150671869-G-C
gnomAD v4: 7-150974781-G-C
MyVariant Identifiers: chr7:g.150671869G>C (hg19) chr7:g.150974781G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150974781G>C , CM000669.2:g.150974781G>C GRCh38
NC_000007.13:g.150671869G>C , CM000669.1:g.150671869G>C GRCh37
NC_000007.12:g.150302802G>C NCBI36
NG_008916.1:g.8146C>G , LRG_288:g.8146C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000262186.10:c.237C>G MANE Select ENSP00000262186.5:p.Ala79=
ENST00000262186.9:c.237C>G ENSP00000262186.5:p.Ala79=
ENST00000430723.4:c.60C>G ENSP00000387657.4:p.Ala20=
ENST00000532957.5:n.460C>G
NM_000238.3:c.237C>G , LRG_288t1:c.237C>G NP_000229.1:p.Ala79=
NM_172056.2:c.237C>G , LRG_288t2:c.237C>G NP_742053.1:p.Ala79=
XM_011516186.1:c.237C>G XP_011514488.1:p.Ala79=
XM_011516186.3:c.237C>G XP_011514488.1:p.Ala79=
XM_017012196.1:c.60C>G XP_016867685.1:p.Ala20=
NM_000238.4:c.237C>G MANE Select NP_000229.1:p.Ala79=
Search 100 bp 5'
Search 100 bp 3'