Canonical Allele Identifier: CA2685610394

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150959819-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150959819A>G , CM000669.2:g.150959819A>G	GRCh38
NC_000007.13:g.150656907A>G , CM000669.1:g.150656907A>G	GRCh37
NC_000007.12:g.150287840A>G	NCBI36
NG_008916.1:g.23108T>C , LRG_288:g.23108T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1058T>C
ENST00000262186.10:c.308-83T>C MANE Select	ENSP00000262186.5:n.308-83T>C
ENST00000262186.9:c.308-83T>C	ENSP00000262186.5:n.308-83T>C
ENST00000430723.4:c.131-83T>C	ENSP00000387657.4:n.131-83T>C
ENST00000532957.5:n.531-83T>C
NM_000238.3:c.308-83T>C , LRG_288t1:c.308-83T>C	NP_000229.1:n.308-83T>C
NM_172056.2:c.308-83T>C , LRG_288t2:c.308-83T>C	NP_742053.1:n.308-83T>C
XM_011516185.1:c.8-83T>C	XP_011514487.1:n.8-83T>C
XM_011516186.1:c.308-83T>C	XP_011514488.1:n.308-83T>C
XM_011516185.2:c.8-83T>C	XP_011514487.1:n.8-83T>C
XM_011516186.3:c.308-83T>C	XP_011514488.1:n.308-83T>C
XM_017012195.1:c.158-83T>C	XP_016867684.1:n.158-83T>C
XM_017012196.1:c.131-83T>C	XP_016867685.1:n.131-83T>C
NM_000238.4:c.308-83T>C MANE Select	NP_000229.1:n.308-83T>C