Canonical Allele Identifier: CA835220925

Gene: KCNH2

Linked Data

• dbSNP Id: rs1394864221
• gnomAD v3: 7-150947137-G-T
• gnomAD v4: 7-150947137-G-T
• MyVariant Identifiers: chr7:g.150644225G>T (hg19) ; chr7:g.150947137G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947137G>T , CM000669.2:g.150947137G>T	GRCh38
NC_000007.13:g.150644225G>T , CM000669.1:g.150644225G>T	GRCh37
NC_000007.12:g.150275158G>T	NCBI36
NG_008916.1:g.35790C>A , LRG_288:g.35790C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3986-83C>A
ENST00000262186.10:c.3153-83C>A MANE Select	ENSP00000262186.5:n.3153-83C>A
ENST00000330883.9:c.2133-83C>A	ENSP00000328531.4:n.2133-83C>A
ENST00000262186.9:c.3153-83C>A	ENSP00000262186.5:n.3153-83C>A
ENST00000330883.8:c.2133-83C>A	ENSP00000328531.4:n.2133-83C>A
NM_000238.3:c.3153-83C>A , LRG_288t1:c.3153-83C>A	NP_000229.1:n.3153-83C>A
NM_172057.2:c.2133-83C>A , LRG_288t3:c.2133-83C>A	NP_742054.1:n.2133-83C>A
XM_011516185.1:c.2853-83C>A	XP_011514487.1:n.2853-83C>A
XM_011516185.2:c.2853-83C>A	XP_011514487.1:n.2853-83C>A
XM_017012195.1:c.3003-83C>A	XP_016867684.1:n.3003-83C>A
XM_017012196.1:c.2976-83C>A	XP_016867685.1:n.2976-83C>A
NM_000238.4:c.3153-83C>A MANE Select	NP_000229.1:n.3153-83C>A
NM_172057.3:c.2133-83C>A	NP_742054.1:n.2133-83C>A