Canonical Allele Identifier: CA369862645

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150958227-A-G
• MyVariant Identifiers: chr7:g.150655315A>G (hg19) ; chr7:g.150958227A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958227A>G , CM000669.2:g.150958227A>G	GRCh38
NC_000007.13:g.150655315A>G , CM000669.1:g.150655315A>G	GRCh37
NC_000007.12:g.150286248A>G	NCBI36
NG_008916.1:g.24700T>C , LRG_288:g.24700T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1581T>C
ENST00000262186.10:c.748T>C MANE Select	ENSP00000262186.5:p.Ser250Pro
ENST00000262186.9:c.748T>C	ENSP00000262186.5:p.Ser250Pro
ENST00000430723.4:c.400T>C	ENSP00000387657.4:p.Ser134Pro
ENST00000532957.5:n.971T>C
NM_000238.3:c.748T>C , LRG_288t1:c.748T>C	NP_000229.1:p.Ser250Pro
NM_172056.2:c.748T>C , LRG_288t2:c.748T>C	NP_742053.1:p.Ser250Pro
XM_011516185.1:c.448T>C	XP_011514487.1:p.Ser150Pro
XM_011516186.1:c.748T>C	XP_011514488.1:p.Ser250Pro
XM_011516185.2:c.448T>C	XP_011514487.1:p.Ser150Pro
XM_011516186.3:c.748T>C	XP_011514488.1:p.Ser250Pro
XM_017012195.1:c.598T>C	XP_016867684.1:p.Ser200Pro
XM_017012196.1:c.571T>C	XP_016867685.1:p.Ser191Pro
NM_000238.4:c.748T>C MANE Select	NP_000229.1:p.Ser250Pro