Canonical Allele Identifier: CA16612197

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 413338
• ClinVar RCV Id: RCV000621469 ; RCV001402781
• dbSNP Id: rs899939755
• gnomAD v2: 7-150655343-C-T
• gnomAD v4: 7-150958255-C-T
• MyVariant Identifiers: chr7:g.150655343C>T (hg19) ; chr7:g.150958255C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958255C>T , CM000669.2:g.150958255C>T	GRCh38
NC_000007.13:g.150655343C>T , CM000669.1:g.150655343C>T	GRCh37
NC_000007.12:g.150286276C>T	NCBI36
NG_008916.1:g.24672G>A , LRG_288:g.24672G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1553G>A
ENST00000262186.10:c.720G>A MANE Select	ENSP00000262186.5:p.Pro240=
ENST00000262186.9:c.720G>A	ENSP00000262186.5:p.Pro240=
ENST00000430723.4:c.372G>A	ENSP00000387657.4:p.Pro124=
ENST00000532957.5:n.943G>A
NM_000238.3:c.720G>A , LRG_288t1:c.720G>A	NP_000229.1:p.Pro240=
NM_172056.2:c.720G>A , LRG_288t2:c.720G>A	NP_742053.1:p.Pro240=
XM_011516185.1:c.420G>A	XP_011514487.1:p.Pro140=
XM_011516186.1:c.720G>A	XP_011514488.1:p.Pro240=
XM_011516185.2:c.420G>A	XP_011514487.1:p.Pro140=
XM_011516186.3:c.720G>A	XP_011514488.1:p.Pro240=
XM_017012195.1:c.570G>A	XP_016867684.1:p.Pro190=
XM_017012196.1:c.543G>A	XP_016867685.1:p.Pro181=
NM_000238.4:c.720G>A MANE Select	NP_000229.1:p.Pro240=