Canonical Allele Identifier: CA169088250

Gene: KCNH2

Linked Data

• dbSNP Id: rs1028729050
• gnomAD v2: 7-150667140-CTAAA-C
• gnomAD v3: 7-150970052-CTAAA-C
• gnomAD v4: 7-150970052-CTAAA-C
• MyVariant Identifiers: chr7:g.150667141_150667144del (hg19) ; chr7:g.150970053_150970056del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150970055_150970058del , CM000669.2:g.150970055_150970058del	GRCh38
NC_000007.13:g.150667143_150667146del , CM000669.1:g.150667143_150667146del	GRCh37
NC_000007.12:g.150298076_150298079del	NCBI36
NG_008916.1:g.12871_12874del , LRG_288:g.12871_12874del

Transcript Alleles

HGVS	Amino-acid change
ENST00000262186.10:c.307+4655_307+4658del MANE Select	ENSP00000262186.5:n.307+4655_307+4658del
ENST00000262186.9:c.307+4655_307+4658del	ENSP00000262186.5:n.307+4655_307+4658del
ENST00000430723.4:c.130+4655_130+4658del	ENSP00000387657.4:n.130+4655_130+4658del
ENST00000532957.5:n.530+4655_530+4658del
NM_000238.3:c.307+4655_307+4658del , LRG_288t1:c.307+4655_307+4658del	NP_000229.1:n.307+4655_307+4658del
NM_172056.2:c.307+4655_307+4658del , LRG_288t2:c.307+4655_307+4658del	NP_742053.1:n.307+4655_307+4658del
XM_011516185.1:c.7+4314_7+4317del	XP_011514487.1:n.7+4314_7+4317del
XM_011516186.1:c.307+4655_307+4658del	XP_011514488.1:n.307+4655_307+4658del
XM_011516185.2:c.7+4314_7+4317del	XP_011514487.1:n.7+4314_7+4317del
XM_011516186.3:c.307+4655_307+4658del	XP_011514488.1:n.307+4655_307+4658del
XM_017012196.1:c.130+4655_130+4658del	XP_016867685.1:n.130+4655_130+4658del
NM_000238.4:c.307+4655_307+4658del MANE Select	NP_000229.1:n.307+4655_307+4658del