Canonical Allele Identifier: CA369857964

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150648635A>G (hg19) ; chr7:g.150951547A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951547A>G , CM000669.2:g.150951547A>G	GRCh38
NC_000007.13:g.150648635A>G , CM000669.1:g.150648635A>G	GRCh37
NC_000007.12:g.150279568A>G	NCBI36
NG_008916.1:g.31380T>C , LRG_288:g.31380T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1144T>C
ENST00000684241.1:n.2679T>C
ENST00000262186.10:c.1846T>C MANE Select	ENSP00000262186.5:p.Tyr616His
ENST00000330883.9:c.826T>C	ENSP00000328531.4:p.Tyr276His
ENST00000262186.9:c.1846T>C	ENSP00000262186.5:p.Tyr616His
ENST00000330883.8:c.826T>C	ENSP00000328531.4:p.Tyr276His
ENST00000430723.4:c.1498T>C	ENSP00000387657.4:p.Tyr500His
ENST00000461280.1:n.1133T>C
ENST00000473610.5:n.1151T>C
ENST00000532957.5:n.2069T>C
NM_000238.3:c.1846T>C , LRG_288t1:c.1846T>C	NP_000229.1:p.Tyr616His
NM_001204798.1:c.826T>C	NP_001191727.1:p.Tyr276His
NM_172056.2:c.1846T>C , LRG_288t2:c.1846T>C	NP_742053.1:p.Tyr616His
NM_172057.2:c.826T>C , LRG_288t3:c.826T>C	NP_742054.1:p.Tyr276His
XM_011516185.1:c.1546T>C	XP_011514487.1:p.Tyr516His
XM_011516186.1:c.1846T>C	XP_011514488.1:p.Tyr616His
XM_011516185.2:c.1546T>C	XP_011514487.1:p.Tyr516His
XM_011516186.3:c.1846T>C	XP_011514488.1:p.Tyr616His
XM_017012195.1:c.1696T>C	XP_016867684.1:p.Tyr566His
XM_017012196.1:c.1669T>C	XP_016867685.1:p.Tyr557His
NM_000238.4:c.1846T>C MANE Select	NP_000229.1:p.Tyr616His
NM_001204798.2:c.826T>C	NP_001191727.1:p.Tyr276His
NM_172057.3:c.826T>C	NP_742054.1:p.Tyr276His