Canonical Allele Identifier: CA369861561

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150957362-T-C
• MyVariant Identifiers: chr7:g.150654450T>C (hg19) ; chr7:g.150957362T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150957362T>C , CM000669.2:g.150957362T>C	GRCh38
NC_000007.13:g.150654450T>C , CM000669.1:g.150654450T>C	GRCh37
NC_000007.12:g.150285383T>C	NCBI36
NG_008916.1:g.25565A>G , LRG_288:g.25565A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1890A>G
ENST00000262186.10:c.1057A>G MANE Select	ENSP00000262186.5:p.Thr353Ala
ENST00000262186.9:c.1057A>G	ENSP00000262186.5:p.Thr353Ala
ENST00000430723.4:c.709A>G	ENSP00000387657.4:p.Thr237Ala
ENST00000532957.5:n.1280A>G
NM_000238.3:c.1057A>G , LRG_288t1:c.1057A>G	NP_000229.1:p.Thr353Ala
NM_172056.2:c.1057A>G , LRG_288t2:c.1057A>G	NP_742053.1:p.Thr353Ala
XM_011516185.1:c.757A>G	XP_011514487.1:p.Thr253Ala
XM_011516186.1:c.1057A>G	XP_011514488.1:p.Thr353Ala
XM_011516185.2:c.757A>G	XP_011514487.1:p.Thr253Ala
XM_011516186.3:c.1057A>G	XP_011514488.1:p.Thr353Ala
XM_017012195.1:c.907A>G	XP_016867684.1:p.Thr303Ala
XM_017012196.1:c.880A>G	XP_016867685.1:p.Thr294Ala
NM_000238.4:c.1057A>G MANE Select	NP_000229.1:p.Thr353Ala