Canonical Allele Identifier: CA458644983

Gene: KCNH2

Linked Data

• dbSNP Id: rs1299978600
• gnomAD v2: 7-150645560-C-T
• gnomAD v4: 7-150948472-C-T
• MyVariant Identifiers: chr7:g.150645560C>T (hg19) ; chr7:g.150948472C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948472C>T , CM000669.2:g.150948472C>T	GRCh38
NC_000007.13:g.150645560C>T , CM000669.1:g.150645560C>T	GRCh37
NC_000007.12:g.150276493C>T	NCBI36
NG_008916.1:g.34455G>A , LRG_288:g.34455G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3497G>A
ENST00000262186.10:c.2664G>A MANE Select	ENSP00000262186.5:p.Lys888=
ENST00000330883.9:c.1644G>A	ENSP00000328531.4:p.Lys548=
ENST00000262186.9:c.2664G>A	ENSP00000262186.5:p.Lys888=
ENST00000330883.8:c.1644G>A	ENSP00000328531.4:p.Lys548=
NM_000238.3:c.2664G>A , LRG_288t1:c.2664G>A	NP_000229.1:p.Lys888=
NM_172057.2:c.1644G>A , LRG_288t3:c.1644G>A	NP_742054.1:p.Lys548=
XM_011516185.1:c.2364G>A	XP_011514487.1:p.Lys788=
XM_011516186.1:c.2664G>A	XP_011514488.1:p.Lys888=
XM_011516185.2:c.2364G>A	XP_011514487.1:p.Lys788=
XM_011516186.3:c.2664G>A	XP_011514488.1:p.Lys888=
XM_017012195.1:c.2514G>A	XP_016867684.1:p.Lys838=
XM_017012196.1:c.2487G>A	XP_016867685.1:p.Lys829=
NM_000238.4:c.2664G>A MANE Select	NP_000229.1:p.Lys888=
NM_172057.3:c.1644G>A	NP_742054.1:p.Lys548=