Canonical Allele Identifier: CA369853005

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 2773420
• ClinVar RCV Id: RCV003592247
• MyVariant Identifiers: chr7:g.150644594A>C (hg19) ; chr7:g.150947506A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947506A>C , CM000669.2:g.150947506A>C	GRCh38
NC_000007.13:g.150644594A>C , CM000669.1:g.150644594A>C	GRCh37
NC_000007.12:g.150275527A>C	NCBI36
NG_008916.1:g.35421T>G , LRG_288:g.35421T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3807T>G
ENST00000262186.10:c.2974T>G MANE Select	ENSP00000262186.5:p.Ser992Ala
ENST00000330883.9:c.1954T>G	ENSP00000328531.4:p.Ser652Ala
ENST00000262186.9:c.2974T>G	ENSP00000262186.5:p.Ser992Ala
ENST00000330883.8:c.1954T>G	ENSP00000328531.4:p.Ser652Ala
NM_000238.3:c.2974T>G , LRG_288t1:c.2974T>G	NP_000229.1:p.Ser992Ala
NM_172057.2:c.1954T>G , LRG_288t3:c.1954T>G	NP_742054.1:p.Ser652Ala
XM_011516185.1:c.2674T>G	XP_011514487.1:p.Ser892Ala
XM_011516186.1:c.*54T>G	XP_011514488.1:n.*54T>G
XM_011516185.2:c.2674T>G	XP_011514487.1:p.Ser892Ala
XM_011516186.3:c.*54T>G	XP_011514488.1:n.*54T>G
XM_017012195.1:c.2824T>G	XP_016867684.1:p.Ser942Ala
XM_017012196.1:c.2797T>G	XP_016867685.1:p.Ser933Ala
NM_000238.4:c.2974T>G MANE Select	NP_000229.1:p.Ser992Ala
NM_172057.3:c.1954T>G	NP_742054.1:p.Ser652Ala