Canonical Allele Identifier: CA006771

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 200245
• ClinVar RCV Id: RCV000181735 ; RCV000243287 ; RCV000316839 ; RCV001095233 ; RCV001531066 ; RCV001842809
• dbSNP Id: rs72549418
• ExAC: 7:150646082 C / T
• gnomAD v2: 7-150646082-C-T
• gnomAD v3: 7-150948994-C-T
• gnomAD v4: 7-150948994-C-T
• MyVariant Identifiers: chr7:g.150646082C>T (hg19) ; chr7:g.150948994C>T (hg38)
• PubMed: PMID:20851114

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948994C>T , CM000669.2:g.150948994C>T	GRCh38
NC_000007.13:g.150646082C>T , CM000669.1:g.150646082C>T	GRCh37
NC_000007.12:g.150277015C>T	NCBI36
NG_008916.1:g.33933G>A , LRG_288:g.33933G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3287G>A
ENST00000262186.10:c.2454G>A MANE Select	ENSP00000262186.5:p.Ser818=
ENST00000330883.9:c.1434G>A	ENSP00000328531.4:p.Ser478=
ENST00000262186.9:c.2454G>A	ENSP00000262186.5:p.Ser818=
ENST00000330883.8:c.1434G>A	ENSP00000328531.4:p.Ser478=
NM_000238.3:c.2454G>A , LRG_288t1:c.2454G>A	NP_000229.1:p.Ser818=
NM_172057.2:c.1434G>A , LRG_288t3:c.1434G>A	NP_742054.1:p.Ser478=
XM_011516185.1:c.2154G>A	XP_011514487.1:p.Ser718=
XM_011516186.1:c.2454G>A	XP_011514488.1:p.Ser818=
XM_011516185.2:c.2154G>A	XP_011514487.1:p.Ser718=
XM_011516186.3:c.2454G>A	XP_011514488.1:p.Ser818=
XM_017012195.1:c.2304G>A	XP_016867684.1:p.Ser768=
XM_017012196.1:c.2277G>A	XP_016867685.1:p.Ser759=
NM_000238.4:c.2454G>A MANE Select	NP_000229.1:p.Ser818=
NM_172057.3:c.1434G>A	NP_742054.1:p.Ser478=