Canonical Allele Identifier: CA2685600461

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150946814-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150946814T>G , CM000669.2:g.150946814T>G	GRCh38
NC_000007.13:g.150643902T>G , CM000669.1:g.150643902T>G	GRCh37
NC_000007.12:g.150274835T>G	NCBI36
NG_008916.1:g.36113A>C , LRG_288:g.36113A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.4163+63A>C
ENST00000262186.10:c.3330+63A>C MANE Select	ENSP00000262186.5:n.3330+63A>C
ENST00000330883.9:c.2310+63A>C	ENSP00000328531.4:n.2310+63A>C
ENST00000262186.9:c.3330+63A>C	ENSP00000262186.5:n.3330+63A>C
ENST00000330883.8:c.2310+63A>C	ENSP00000328531.4:n.2310+63A>C
NM_000238.3:c.3330+63A>C , LRG_288t1:c.3330+63A>C	NP_000229.1:n.3330+63A>C
NM_172057.2:c.2310+63A>C , LRG_288t3:c.2310+63A>C	NP_742054.1:n.2310+63A>C
XM_011516185.1:c.3030+63A>C	XP_011514487.1:n.3030+63A>C
XM_011516185.2:c.3030+63A>C	XP_011514487.1:n.3030+63A>C
XM_017012195.1:c.3180+63A>C	XP_016867684.1:n.3180+63A>C
XM_017012196.1:c.3153+63A>C	XP_016867685.1:n.3153+63A>C
NM_000238.4:c.3330+63A>C MANE Select	NP_000229.1:n.3330+63A>C
NM_172057.3:c.2310+63A>C	NP_742054.1:n.2310+63A>C