Canonical Allele Identifier: CA458645158

Gene: KCNH2

Linked Data

• dbSNP Id: rs1292419338
• gnomAD v2: 7-150646025-G-A
• gnomAD v4: 7-150948937-G-A
• MyVariant Identifiers: chr7:g.150646025G>A (hg19) ; chr7:g.150948937G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948937G>A , CM000669.2:g.150948937G>A	GRCh38
NC_000007.13:g.150646025G>A , CM000669.1:g.150646025G>A	GRCh37
NC_000007.12:g.150276958G>A	NCBI36
NG_008916.1:g.33990C>T , LRG_288:g.33990C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3344C>T
ENST00000262186.10:c.2511C>T MANE Select	ENSP00000262186.5:p.Asp837=
ENST00000330883.9:c.1491C>T	ENSP00000328531.4:p.Asp497=
ENST00000262186.9:c.2511C>T	ENSP00000262186.5:p.Asp837=
ENST00000330883.8:c.1491C>T	ENSP00000328531.4:p.Asp497=
NM_000238.3:c.2511C>T , LRG_288t1:c.2511C>T	NP_000229.1:p.Asp837=
NM_172057.2:c.1491C>T , LRG_288t3:c.1491C>T	NP_742054.1:p.Asp497=
XM_011516185.1:c.2211C>T	XP_011514487.1:p.Asp737=
XM_011516186.1:c.2511C>T	XP_011514488.1:p.Asp837=
XM_011516185.2:c.2211C>T	XP_011514487.1:p.Asp737=
XM_011516186.3:c.2511C>T	XP_011514488.1:p.Asp837=
XM_017012195.1:c.2361C>T	XP_016867684.1:p.Asp787=
XM_017012196.1:c.2334C>T	XP_016867685.1:p.Asp778=
NM_000238.4:c.2511C>T MANE Select	NP_000229.1:p.Asp837=
NM_172057.3:c.1491C>T	NP_742054.1:p.Asp497=