Canonical Allele Identifier: CA458645027

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 921341
• ClinVar RCV Id: RCV001843074
• dbSNP Id: rs1801010237
• gnomAD v4: 7-150948523-G-A
• MyVariant Identifiers: chr7:g.150645611G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948523G>A , CM000669.2:g.150948523G>A	GRCh38
NC_000007.13:g.150645611G>A , CM000669.1:g.150645611G>A	GRCh37
NC_000007.12:g.150276544G>A	NCBI36
NG_008916.1:g.34404C>T , LRG_288:g.34404C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3446C>T
ENST00000262186.10:c.2613C>T MANE Select	ENSP00000262186.5:p.Ser871=
ENST00000330883.9:c.1593C>T	ENSP00000328531.4:p.Ser531=
ENST00000262186.9:c.2613C>T	ENSP00000262186.5:p.Ser871=
ENST00000330883.8:c.1593C>T	ENSP00000328531.4:p.Ser531=
NM_000238.3:c.2613C>T , LRG_288t1:c.2613C>T	NP_000229.1:p.Ser871=
NM_172057.2:c.1593C>T , LRG_288t3:c.1593C>T	NP_742054.1:p.Ser531=
XM_011516185.1:c.2313C>T	XP_011514487.1:p.Ser771=
XM_011516186.1:c.2613C>T	XP_011514488.1:p.Ser871=
XM_011516185.2:c.2313C>T	XP_011514487.1:p.Ser771=
XM_011516186.3:c.2613C>T	XP_011514488.1:p.Ser871=
XM_017012195.1:c.2463C>T	XP_016867684.1:p.Ser821=
XM_017012196.1:c.2436C>T	XP_016867685.1:p.Ser812=
NM_000238.4:c.2613C>T MANE Select	NP_000229.1:p.Ser871=
NM_172057.3:c.1593C>T	NP_742054.1:p.Ser531=