Canonical Allele Identifier: CA835214424

Gene: KCNH2

Linked Data

• dbSNP Id: rs1173452391
• gnomAD v3: 7-150975188-CCCCG-C
• gnomAD v4: 7-150975188-CCCCG-C
• MyVariant Identifiers: chr7:g.150672277_150672280del (hg19) ; chr7:g.150975189_150975192del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150975189_150975192del , CM000669.2:g.150975189_150975192del	GRCh38
NC_000007.13:g.150672277_150672280del , CM000669.1:g.150672277_150672280del	GRCh37
NC_000007.12:g.150303210_150303213del	NCBI36
NG_008916.1:g.7735_7738del , LRG_288:g.7735_7738del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262186.10:c.77-251_77-248del MANE Select	ENSP00000262186.5:n.77-251_77-248del
ENST00000262186.9:c.77-251_77-248del	ENSP00000262186.5:n.77-251_77-248del
ENST00000430723.4:c.-101-251_-101-248del	ENSP00000387657.4:n.-101-251_-101-248del
ENST00000532957.5:n.300-251_300-248del
NM_000238.3:c.77-251_77-248del , LRG_288t1:c.77-251_77-248del	NP_000229.1:n.77-251_77-248del
NM_172056.2:c.77-251_77-248del , LRG_288t2:c.77-251_77-248del	NP_742053.1:n.77-251_77-248del
XM_011516186.1:c.77-251_77-248del	XP_011514488.1:n.77-251_77-248del
XM_011516186.3:c.77-251_77-248del	XP_011514488.1:n.77-251_77-248del
NM_000238.4:c.77-251_77-248del MANE Select	NP_000229.1:n.77-251_77-248del