Canonical Allele Identifier: CA369851599

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 918904
• ClinVar RCV Id: RCV001842662
• dbSNP Id: rs1800858723
• gnomAD v4: 7-150945499-C-T
• MyVariant Identifiers: chr7:g.150642587C>T (hg19) ; chr7:g.150945499C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150945499C>T , CM000669.2:g.150945499C>T	GRCh38
NC_000007.13:g.150642587C>T , CM000669.1:g.150642587C>T	GRCh37
NC_000007.12:g.150273520C>T	NCBI36
NG_008916.1:g.37428G>A , LRG_288:g.37428G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.4179G>A
ENST00000262186.10:c.3346G>A MANE Select	ENSP00000262186.5:p.Ala1116Thr
ENST00000330883.9:c.2326G>A	ENSP00000328531.4:p.Ala776Thr
ENST00000262186.9:c.3346G>A	ENSP00000262186.5:p.Ala1116Thr
ENST00000330883.8:c.2326G>A	ENSP00000328531.4:p.Ala776Thr
NM_000238.3:c.3346G>A , LRG_288t1:c.3346G>A	NP_000229.1:p.Ala1116Thr
NM_172057.2:c.2326G>A , LRG_288t3:c.2326G>A	NP_742054.1:p.Ala776Thr
XM_011516185.1:c.3046G>A	XP_011514487.1:p.Ala1016Thr
XM_011516185.2:c.3046G>A	XP_011514487.1:p.Ala1016Thr
XM_017012195.1:c.3196G>A	XP_016867684.1:p.Ala1066Thr
XM_017012196.1:c.3169G>A	XP_016867685.1:p.Ala1057Thr
NM_000238.4:c.3346G>A MANE Select	NP_000229.1:p.Ala1116Thr
NM_172057.3:c.2326G>A	NP_742054.1:p.Ala776Thr