Canonical Allele Identifier: CA2685601365

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150947214-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947214A>G , CM000669.2:g.150947214A>G	GRCh38
NC_000007.13:g.150644302A>G , CM000669.1:g.150644302A>G	GRCh37
NC_000007.12:g.150275235A>G	NCBI36
NG_008916.1:g.35713T>C , LRG_288:g.35713T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3985+114T>C
ENST00000262186.10:c.3152+114T>C MANE Select	ENSP00000262186.5:n.3152+114T>C
ENST00000330883.9:c.2132+114T>C	ENSP00000328531.4:n.2132+114T>C
ENST00000262186.9:c.3152+114T>C	ENSP00000262186.5:n.3152+114T>C
ENST00000330883.8:c.2132+114T>C	ENSP00000328531.4:n.2132+114T>C
NM_000238.3:c.3152+114T>C , LRG_288t1:c.3152+114T>C	NP_000229.1:n.3152+114T>C
NM_172057.2:c.2132+114T>C , LRG_288t3:c.2132+114T>C	NP_742054.1:n.2132+114T>C
XM_011516185.1:c.2852+114T>C	XP_011514487.1:n.2852+114T>C
XM_011516185.2:c.2852+114T>C	XP_011514487.1:n.2852+114T>C
XM_017012195.1:c.3002+114T>C	XP_016867684.1:n.3002+114T>C
XM_017012196.1:c.2975+114T>C	XP_016867685.1:n.2975+114T>C
NM_000238.4:c.3152+114T>C MANE Select	NP_000229.1:n.3152+114T>C
NM_172057.3:c.2132+114T>C	NP_742054.1:n.2132+114T>C