Canonical Allele Identifier: CA458645140

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150948919-G-A
• MyVariant Identifiers: chr7:g.150646007G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948919G>A , CM000669.2:g.150948919G>A	GRCh38
NC_000007.13:g.150646007G>A , CM000669.1:g.150646007G>A	GRCh37
NC_000007.12:g.150276940G>A	NCBI36
NG_008916.1:g.34008C>T , LRG_288:g.34008C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3362C>T
ENST00000262186.10:c.2529C>T MANE Select	ENSP00000262186.5:p.Asp843=
ENST00000330883.9:c.1509C>T	ENSP00000328531.4:p.Asp503=
ENST00000262186.9:c.2529C>T	ENSP00000262186.5:p.Asp843=
ENST00000330883.8:c.1509C>T	ENSP00000328531.4:p.Asp503=
NM_000238.3:c.2529C>T , LRG_288t1:c.2529C>T	NP_000229.1:p.Asp843=
NM_172057.2:c.1509C>T , LRG_288t3:c.1509C>T	NP_742054.1:p.Asp503=
XM_011516185.1:c.2229C>T	XP_011514487.1:p.Asp743=
XM_011516186.1:c.2529C>T	XP_011514488.1:p.Asp843=
XM_011516185.2:c.2229C>T	XP_011514487.1:p.Asp743=
XM_011516186.3:c.2529C>T	XP_011514488.1:p.Asp843=
XM_017012195.1:c.2379C>T	XP_016867684.1:p.Asp793=
XM_017012196.1:c.2352C>T	XP_016867685.1:p.Asp784=
NM_000238.4:c.2529C>T MANE Select	NP_000229.1:p.Asp843=
NM_172057.3:c.1509C>T	NP_742054.1:p.Asp503=