Canonical Allele Identifier: CA040927

Gene: KCNH2

Linked Data

• dbSNP Id: rs762426647
• ExAC: 7:150654583 C / T
• gnomAD v2: 7-150654583-C-T
• gnomAD v3: 7-150957495-C-T
• gnomAD v4: 7-150957495-C-T
• MyVariant Identifiers: chr7:g.150654583C>T (hg19) ; chr7:g.150957495C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150957495C>T , CM000669.2:g.150957495C>T	GRCh38
NC_000007.13:g.150654583C>T , CM000669.1:g.150654583C>T	GRCh37
NC_000007.12:g.150285516C>T	NCBI36
NG_008916.1:g.25432G>A , LRG_288:g.25432G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1757G>A
ENST00000262186.10:c.924G>A MANE Select	ENSP00000262186.5:p.Met308Ile
ENST00000262186.9:c.924G>A	ENSP00000262186.5:p.Met308Ile
ENST00000430723.4:c.576G>A	ENSP00000387657.4:p.Met192Ile
ENST00000532957.5:n.1147G>A
NM_000238.3:c.924G>A , LRG_288t1:c.924G>A	NP_000229.1:p.Met308Ile
NM_172056.2:c.924G>A , LRG_288t2:c.924G>A	NP_742053.1:p.Met308Ile
XM_011516185.1:c.624G>A	XP_011514487.1:p.Met208Ile
XM_011516186.1:c.924G>A	XP_011514488.1:p.Met308Ile
XM_011516185.2:c.624G>A	XP_011514487.1:p.Met208Ile
XM_011516186.3:c.924G>A	XP_011514488.1:p.Met308Ile
XM_017012195.1:c.774G>A	XP_016867684.1:p.Met258Ile
XM_017012196.1:c.747G>A	XP_016867685.1:p.Met249Ile
NM_000238.4:c.924G>A MANE Select	NP_000229.1:p.Met308Ile