Canonical Allele Identifier: CA578701577

Gene: KCNH2

Linked Data

• dbSNP Id: rs1584846542
• gnomAD v2: 7-150645495-T-TTC
• gnomAD v4: 7-150948407-T-TTC
• MyVariant Identifiers: chr7:g.150645495_150645496insTC (hg19) ; chr7:g.150948407_150948408insTC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948407_150948408insTC , CM000669.2:g.150948407_150948408insTC	GRCh38
NC_000007.13:g.150645495_150645496insTC , CM000669.1:g.150645495_150645496insTC	GRCh37
NC_000007.12:g.150276428_150276429insTC	NCBI36
NG_008916.1:g.34519_34520insGA , LRG_288:g.34519_34520insGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3525+36_3525+37insGA
ENST00000262186.10:c.2692+36_2692+37insGA MANE Select	ENSP00000262186.5:n.2692+36_2692+37insGA
ENST00000330883.9:c.1672+36_1672+37insGA	ENSP00000328531.4:n.1672+36_1672+37insGA
ENST00000262186.9:c.2692+36_2692+37insGA	ENSP00000262186.5:n.2692+36_2692+37insGA
ENST00000330883.8:c.1672+36_1672+37insGA	ENSP00000328531.4:n.1672+36_1672+37insGA
NM_000238.3:c.2692+36_2692+37insGA , LRG_288t1:c.2692+36_2692+37insGA	NP_000229.1:n.2692+36_2692+37insGA
NM_172057.2:c.1672+36_1672+37insGA , LRG_288t3:c.1672+36_1672+37insGA	NP_742054.1:n.1672+36_1672+37insGA
XM_011516185.1:c.2392+36_2392+37insGA	XP_011514487.1:n.2392+36_2392+37insGA
XM_011516186.1:c.2692+36_2692+37insGA	XP_011514488.1:n.2692+36_2692+37insGA
XM_011516185.2:c.2392+36_2392+37insGA	XP_011514487.1:n.2392+36_2392+37insGA
XM_011516186.3:c.2692+36_2692+37insGA	XP_011514488.1:n.2692+36_2692+37insGA
XM_017012195.1:c.2542+36_2542+37insGA	XP_016867684.1:n.2542+36_2542+37insGA
XM_017012196.1:c.2515+36_2515+37insGA	XP_016867685.1:n.2515+36_2515+37insGA
NM_000238.4:c.2692+36_2692+37insGA MANE Select	NP_000229.1:n.2692+36_2692+37insGA
NM_172057.3:c.1672+36_1672+37insGA	NP_742054.1:n.1672+36_1672+37insGA