Canonical Allele Identifier: CA1752431026

Gene: KCNH2

Linked Data

• dbSNP Id: rs1800996247

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948362A>G , CM000669.2:g.150948362A>G	GRCh38
NC_000007.13:g.150645450A>G , CM000669.1:g.150645450A>G	GRCh37
NC_000007.12:g.150276383A>G	NCBI36
NG_008916.1:g.34565T>C , LRG_288:g.34565T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3525+82T>C
ENST00000262186.10:c.2692+82T>C MANE Select	ENSP00000262186.5:n.2692+82T>C
ENST00000330883.9:c.1672+82T>C	ENSP00000328531.4:n.1672+82T>C
ENST00000262186.9:c.2692+82T>C	ENSP00000262186.5:n.2692+82T>C
ENST00000330883.8:c.1672+82T>C	ENSP00000328531.4:n.1672+82T>C
NM_000238.3:c.2692+82T>C , LRG_288t1:c.2692+82T>C	NP_000229.1:n.2692+82T>C
NM_172057.2:c.1672+82T>C , LRG_288t3:c.1672+82T>C	NP_742054.1:n.1672+82T>C
XM_011516185.1:c.2392+82T>C	XP_011514487.1:n.2392+82T>C
XM_011516186.1:c.2692+82T>C	XP_011514488.1:n.2692+82T>C
XM_011516185.2:c.2392+82T>C	XP_011514487.1:n.2392+82T>C
XM_011516186.3:c.2692+82T>C	XP_011514488.1:n.2692+82T>C
XM_017012195.1:c.2542+82T>C	XP_016867684.1:n.2542+82T>C
XM_017012196.1:c.2515+82T>C	XP_016867685.1:n.2515+82T>C
NM_000238.4:c.2692+82T>C MANE Select	NP_000229.1:n.2692+82T>C
NM_172057.3:c.1672+82T>C	NP_742054.1:n.1672+82T>C