Canonical Allele Identifier: CA2685601726

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150947306-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947306_150947307insT , CM000669.2:g.150947306_150947307insT	GRCh38
NC_000007.13:g.150644394_150644395insT , CM000669.1:g.150644394_150644395insT	GRCh37
NC_000007.12:g.150275327_150275328insT	NCBI36
NG_008916.1:g.35620_35621insA , LRG_288:g.35620_35621insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3985+21_3985+22insA
ENST00000262186.10:c.3152+21_3152+22insA MANE Select	ENSP00000262186.5:n.3152+21_3152+22insA
ENST00000330883.9:c.2132+21_2132+22insA	ENSP00000328531.4:n.2132+21_2132+22insA
ENST00000262186.9:c.3152+21_3152+22insA	ENSP00000262186.5:n.3152+21_3152+22insA
ENST00000330883.8:c.2132+21_2132+22insA	ENSP00000328531.4:n.2132+21_2132+22insA
NM_000238.3:c.3152+21_3152+22insA , LRG_288t1:c.3152+21_3152+22insA	NP_000229.1:n.3152+21_3152+22insA
NM_172057.2:c.2132+21_2132+22insA , LRG_288t3:c.2132+21_2132+22insA	NP_742054.1:n.2132+21_2132+22insA
XM_011516185.1:c.2852+21_2852+22insA	XP_011514487.1:n.2852+21_2852+22insA
XM_011516185.2:c.2852+21_2852+22insA	XP_011514487.1:n.2852+21_2852+22insA
XM_017012195.1:c.3002+21_3002+22insA	XP_016867684.1:n.3002+21_3002+22insA
XM_017012196.1:c.2975+21_2975+22insA	XP_016867685.1:n.2975+21_2975+22insA
NM_000238.4:c.3152+21_3152+22insA MANE Select	NP_000229.1:n.3152+21_3152+22insA
NM_172057.3:c.2132+21_2132+22insA	NP_742054.1:n.2132+21_2132+22insA