Canonical Allele Identifier: CA1752430639

Gene: KCNH2

Linked Data

• dbSNP Id: rs1800980368
• gnomAD v4: 7-150947956-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947956A>G , CM000669.2:g.150947956A>G	GRCh38
NC_000007.13:g.150645044A>G , CM000669.1:g.150645044A>G	GRCh37
NC_000007.12:g.150275977A>G	NCBI36
NG_008916.1:g.34971T>C , LRG_288:g.34971T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3526-78T>C
ENST00000262186.10:c.2693-78T>C MANE Select	ENSP00000262186.5:n.2693-78T>C
ENST00000330883.9:c.1673-78T>C	ENSP00000328531.4:n.1673-78T>C
ENST00000262186.9:c.2693-78T>C	ENSP00000262186.5:n.2693-78T>C
ENST00000330883.8:c.1673-78T>C	ENSP00000328531.4:n.1673-78T>C
NM_000238.3:c.2693-78T>C , LRG_288t1:c.2693-78T>C	NP_000229.1:n.2693-78T>C
NM_172057.2:c.1673-78T>C , LRG_288t3:c.1673-78T>C	NP_742054.1:n.1673-78T>C
XM_011516185.1:c.2393-78T>C	XP_011514487.1:n.2393-78T>C
XM_011516186.1:c.2693-265T>C	XP_011514488.1:n.2693-265T>C
XM_011516185.2:c.2393-78T>C	XP_011514487.1:n.2393-78T>C
XM_011516186.3:c.2693-265T>C	XP_011514488.1:n.2693-265T>C
XM_017012195.1:c.2543-78T>C	XP_016867684.1:n.2543-78T>C
XM_017012196.1:c.2516-78T>C	XP_016867685.1:n.2516-78T>C
NM_000238.4:c.2693-78T>C MANE Select	NP_000229.1:n.2693-78T>C
NM_172057.3:c.1673-78T>C	NP_742054.1:n.1673-78T>C