Canonical Allele Identifier: CA039788

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1084104
• ClinVar RCV Id: RCV001700740 ; RCV001702592
• dbSNP Id: rs751673669
• ExAC: 7:150655596 G / A
• gnomAD v2: 7-150655596-G-A
• gnomAD v3: 7-150958508-G-A
• gnomAD v4: 7-150958508-G-A
• MyVariant Identifiers: chr7:g.150655596G>A (hg19) ; chr7:g.150958508G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958508G>A , CM000669.2:g.150958508G>A	GRCh38
NC_000007.13:g.150655596G>A , CM000669.1:g.150655596G>A	GRCh37
NC_000007.12:g.150286529G>A	NCBI36
NG_008916.1:g.24419C>T , LRG_288:g.24419C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1306-6C>T
ENST00000262186.10:c.473-6C>T MANE Select	ENSP00000262186.5:n.473-6C>T
ENST00000262186.9:c.473-6C>T	ENSP00000262186.5:n.473-6C>T
ENST00000430723.4:c.235-116C>T	ENSP00000387657.4:n.235-116C>T
ENST00000532957.5:n.696-6C>T
NM_000238.3:c.473-6C>T , LRG_288t1:c.473-6C>T	NP_000229.1:n.473-6C>T
NM_172056.2:c.473-6C>T , LRG_288t2:c.473-6C>T	NP_742053.1:n.473-6C>T
XM_011516185.1:c.173-6C>T	XP_011514487.1:n.173-6C>T
XM_011516186.1:c.473-6C>T	XP_011514488.1:n.473-6C>T
XM_011516185.2:c.173-6C>T	XP_011514487.1:n.173-6C>T
XM_011516186.3:c.473-6C>T	XP_011514488.1:n.473-6C>T
XM_017012195.1:c.323-6C>T	XP_016867684.1:n.323-6C>T
XM_017012196.1:c.296-6C>T	XP_016867685.1:n.296-6C>T
NM_000238.4:c.473-6C>T MANE Select	NP_000229.1:n.473-6C>T