Canonical Allele Identifier: CA369852124

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150644053A>G (hg19) ; chr7:g.150946965A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150946965A>G , CM000669.2:g.150946965A>G	GRCh38
NC_000007.13:g.150644053A>G , CM000669.1:g.150644053A>G	GRCh37
NC_000007.12:g.150274986A>G	NCBI36
NG_008916.1:g.35962T>C , LRG_288:g.35962T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.4075T>C
ENST00000262186.10:c.3242T>C MANE Select	ENSP00000262186.5:p.Val1081Ala
ENST00000330883.9:c.2222T>C	ENSP00000328531.4:p.Val741Ala
ENST00000262186.9:c.3242T>C	ENSP00000262186.5:p.Val1081Ala
ENST00000330883.8:c.2222T>C	ENSP00000328531.4:p.Val741Ala
NM_000238.3:c.3242T>C , LRG_288t1:c.3242T>C	NP_000229.1:p.Val1081Ala
NM_172057.2:c.2222T>C , LRG_288t3:c.2222T>C	NP_742054.1:p.Val741Ala
XM_011516185.1:c.2942T>C	XP_011514487.1:p.Val981Ala
XM_011516185.2:c.2942T>C	XP_011514487.1:p.Val981Ala
XM_017012195.1:c.3092T>C	XP_016867684.1:p.Val1031Ala
XM_017012196.1:c.3065T>C	XP_016867685.1:p.Val1022Ala
NM_000238.4:c.3242T>C MANE Select	NP_000229.1:p.Val1081Ala
NM_172057.3:c.2222T>C	NP_742054.1:p.Val741Ala