Canonical Allele Identifier: CA007206

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 67429
• ClinVar RCV Id: RCV000058154 ; RCV000203863 ; RCV000765943 ; RCV001841718 ; RCV001699029 ; RCV002470748 ; RCV003298110
• dbSNP Id: rs199473435
• gnomAD v2: 7-150644942-G-A
• gnomAD v3: 7-150947854-G-A
• gnomAD v4: 7-150947854-G-A
• MyVariant Identifiers: chr7:g.150644942G>A (hg19) ; chr7:g.150947854G>A (hg38)
• PubMed: PMID:19716085 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947854G>A , CM000669.2:g.150947854G>A	GRCh38
NC_000007.13:g.150644942G>A , CM000669.1:g.150644942G>A	GRCh37
NC_000007.12:g.150275875G>A	NCBI36
NG_008916.1:g.35073C>T , LRG_288:g.35073C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3550C>T
ENST00000262186.10:c.2717C>T MANE Select	ENSP00000262186.5:p.Ser906Leu
ENST00000330883.9:c.1697C>T	ENSP00000328531.4:p.Ser566Leu
ENST00000262186.9:c.2717C>T	ENSP00000262186.5:p.Ser906Leu
ENST00000330883.8:c.1697C>T	ENSP00000328531.4:p.Ser566Leu
NM_000238.3:c.2717C>T , LRG_288t1:c.2717C>T	NP_000229.1:p.Ser906Leu
NM_172057.2:c.1697C>T , LRG_288t3:c.1697C>T	NP_742054.1:p.Ser566Leu
XM_011516185.1:c.2417C>T	XP_011514487.1:p.Ser806Leu
XM_011516186.1:c.2693-163C>T	XP_011514488.1:n.2693-163C>T
XM_011516185.2:c.2417C>T	XP_011514487.1:p.Ser806Leu
XM_011516186.3:c.2693-163C>T	XP_011514488.1:n.2693-163C>T
XM_017012195.1:c.2567C>T	XP_016867684.1:p.Ser856Leu
XM_017012196.1:c.2540C>T	XP_016867685.1:p.Ser847Leu
NM_000238.4:c.2717C>T MANE Select	NP_000229.1:p.Ser906Leu
NM_172057.3:c.1697C>T	NP_742054.1:p.Ser566Leu