Canonical Allele Identifier: CA2685601401

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150947230-G-GCA

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947237_150947238dup , CM000669.2:g.150947237_150947238dup	GRCh38
NC_000007.13:g.150644325_150644326dup , CM000669.1:g.150644325_150644326dup	GRCh37
NC_000007.12:g.150275258_150275259dup	NCBI36
NG_008916.1:g.35695_35696dup , LRG_288:g.35695_35696dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3985+96_3985+97dup
ENST00000262186.10:c.3152+96_3152+97dup MANE Select	ENSP00000262186.5:n.3152+96_3152+97dup
ENST00000330883.9:c.2132+96_2132+97dup	ENSP00000328531.4:n.2132+96_2132+97dup
ENST00000262186.9:c.3152+96_3152+97dup	ENSP00000262186.5:n.3152+96_3152+97dup
ENST00000330883.8:c.2132+96_2132+97dup	ENSP00000328531.4:n.2132+96_2132+97dup
NM_000238.3:c.3152+96_3152+97dup , LRG_288t1:c.3152+96_3152+97dup	NP_000229.1:n.3152+96_3152+97dup
NM_172057.2:c.2132+96_2132+97dup , LRG_288t3:c.2132+96_2132+97dup	NP_742054.1:n.2132+96_2132+97dup
XM_011516185.1:c.2852+96_2852+97dup	XP_011514487.1:n.2852+96_2852+97dup
XM_011516185.2:c.2852+96_2852+97dup	XP_011514487.1:n.2852+96_2852+97dup
XM_017012195.1:c.3002+96_3002+97dup	XP_016867684.1:n.3002+96_3002+97dup
XM_017012196.1:c.2975+96_2975+97dup	XP_016867685.1:n.2975+96_2975+97dup
NM_000238.4:c.3152+96_3152+97dup MANE Select	NP_000229.1:n.3152+96_3152+97dup
NM_172057.3:c.2132+96_2132+97dup	NP_742054.1:n.2132+96_2132+97dup