Canonical Allele Identifier: CA032701

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 2777336
• ClinVar RCV Id: RCV003648034
• dbSNP Id: rs749572065
• ExAC: 7:150671865 G / C
• gnomAD v2: 7-150671865-G-C
• MyVariant Identifiers: chr7:g.150671865G>C (hg19) ; chr7:g.150974777G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150974777G>C , CM000669.2:g.150974777G>C	GRCh38
NC_000007.13:g.150671865G>C , CM000669.1:g.150671865G>C	GRCh37
NC_000007.12:g.150302798G>C	NCBI36
NG_008916.1:g.8150C>G , LRG_288:g.8150C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000262186.10:c.241C>G MANE Select	ENSP00000262186.5:p.Gln81Glu
ENST00000262186.9:c.241C>G	ENSP00000262186.5:p.Gln81Glu
ENST00000430723.4:c.64C>G	ENSP00000387657.4:p.Gln22Glu
ENST00000532957.5:n.464C>G
NM_000238.3:c.241C>G , LRG_288t1:c.241C>G	NP_000229.1:p.Gln81Glu
NM_172056.2:c.241C>G , LRG_288t2:c.241C>G	NP_742053.1:p.Gln81Glu
XM_011516186.1:c.241C>G	XP_011514488.1:p.Gln81Glu
XM_011516186.3:c.241C>G	XP_011514488.1:p.Gln81Glu
XM_017012196.1:c.64C>G	XP_016867685.1:p.Gln22Glu
NM_000238.4:c.241C>G MANE Select	NP_000229.1:p.Gln81Glu