Canonical Allele Identifier: CA579075214

Gene: KCNH2

Linked Data

• dbSNP Id: rs1249869515
• gnomAD v2: 7-150645012-GA-G
• gnomAD v3: 7-150947924-GA-G
• gnomAD v4: 7-150947924-GA-G
• MyVariant Identifiers: chr7:g.150645013del (hg19) ; chr7:g.150947925del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947925del , CM000669.2:g.150947925del	GRCh38
NC_000007.13:g.150645013del , CM000669.1:g.150645013del	GRCh37
NC_000007.12:g.150275946del	NCBI36
NG_008916.1:g.35002del , LRG_288:g.35002del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3526-47del
ENST00000262186.10:c.2693-47del MANE Select	ENSP00000262186.5:n.2693-47del
ENST00000330883.9:c.1673-47del	ENSP00000328531.4:n.1673-47del
ENST00000262186.9:c.2693-47del	ENSP00000262186.5:n.2693-47del
ENST00000330883.8:c.1673-47del	ENSP00000328531.4:n.1673-47del
NM_000238.3:c.2693-47del , LRG_288t1:c.2693-47del	NP_000229.1:n.2693-47del
NM_172057.2:c.1673-47del , LRG_288t3:c.1673-47del	NP_742054.1:n.1673-47del
XM_011516185.1:c.2393-47del	XP_011514487.1:n.2393-47del
XM_011516186.1:c.2693-234del	XP_011514488.1:n.2693-234del
XM_011516185.2:c.2393-47del	XP_011514487.1:n.2393-47del
XM_011516186.3:c.2693-234del	XP_011514488.1:n.2693-234del
XM_017012195.1:c.2543-47del	XP_016867684.1:n.2543-47del
XM_017012196.1:c.2516-47del	XP_016867685.1:n.2516-47del
NM_000238.4:c.2693-47del MANE Select	NP_000229.1:n.2693-47del
NM_172057.3:c.1673-47del	NP_742054.1:n.1673-47del