Canonical Allele Identifier: CA369851406

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150945401-C-A
• MyVariant Identifiers: chr7:g.150642489C>A (hg19) ; chr7:g.150945401C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150945401C>A , CM000669.2:g.150945401C>A	GRCh38
NC_000007.13:g.150642489C>A , CM000669.1:g.150642489C>A	GRCh37
NC_000007.12:g.150273422C>A	NCBI36
NG_008916.1:g.37526G>T , LRG_288:g.37526G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.4277G>T
ENST00000262186.10:c.3444G>T MANE Select	ENSP00000262186.5:p.Gln1148His
ENST00000330883.9:c.2424G>T	ENSP00000328531.4:p.Gln808His
ENST00000262186.9:c.3444G>T	ENSP00000262186.5:p.Gln1148His
ENST00000330883.8:c.2424G>T	ENSP00000328531.4:p.Gln808His
NM_000238.3:c.3444G>T , LRG_288t1:c.3444G>T	NP_000229.1:p.Gln1148His
NM_172057.2:c.2424G>T , LRG_288t3:c.2424G>T	NP_742054.1:p.Gln808His
XM_011516185.1:c.3144G>T	XP_011514487.1:p.Gln1048His
XM_011516185.2:c.3144G>T	XP_011514487.1:p.Gln1048His
XM_017012195.1:c.3294G>T	XP_016867684.1:p.Gln1098His
XM_017012196.1:c.3267G>T	XP_016867685.1:p.Gln1089His
NM_000238.4:c.3444G>T MANE Select	NP_000229.1:p.Gln1148His
NM_172057.3:c.2424G>T	NP_742054.1:p.Gln808His