Canonical Allele Identifier: CA1752420177

Gene: KCNH2

Linked Data

• dbSNP Id: rs1801503476
• gnomAD v4: 7-150959756-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150959756A>G , CM000669.2:g.150959756A>G	GRCh38
NC_000007.13:g.150656844A>G , CM000669.1:g.150656844A>G	GRCh37
NC_000007.12:g.150287777A>G	NCBI36
NG_008916.1:g.23171T>C , LRG_288:g.23171T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1121T>C
ENST00000262186.10:c.308-20T>C MANE Select	ENSP00000262186.5:n.308-20T>C
ENST00000262186.9:c.308-20T>C	ENSP00000262186.5:n.308-20T>C
ENST00000430723.4:c.131-20T>C	ENSP00000387657.4:n.131-20T>C
ENST00000532957.5:n.531-20T>C
NM_000238.3:c.308-20T>C , LRG_288t1:c.308-20T>C	NP_000229.1:n.308-20T>C
NM_172056.2:c.308-20T>C , LRG_288t2:c.308-20T>C	NP_742053.1:n.308-20T>C
XM_011516185.1:c.8-20T>C	XP_011514487.1:n.8-20T>C
XM_011516186.1:c.308-20T>C	XP_011514488.1:n.308-20T>C
XM_011516185.2:c.8-20T>C	XP_011514487.1:n.8-20T>C
XM_011516186.3:c.308-20T>C	XP_011514488.1:n.308-20T>C
XM_017012195.1:c.158-20T>C	XP_016867684.1:n.158-20T>C
XM_017012196.1:c.131-20T>C	XP_016867685.1:n.131-20T>C
NM_000238.4:c.308-20T>C MANE Select	NP_000229.1:n.308-20T>C