Canonical Allele Identifier: CA369859647

Gene: KCNH2

Linked Data

• dbSNP Id: rs1801213368
• MyVariant Identifiers: chr7:g.150649579C>G (hg19) ; chr7:g.150952491C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952491C>G , CM000669.2:g.150952491C>G	GRCh38
NC_000007.13:g.150649579C>G , CM000669.1:g.150649579C>G	GRCh37
NC_000007.12:g.150280512C>G	NCBI36
NG_008916.1:g.30436G>C , LRG_288:g.30436G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.789G>C
ENST00000684116.1:n.384G>C
ENST00000684241.1:n.2324G>C
ENST00000262186.10:c.1491G>C MANE Select	ENSP00000262186.5:p.Trp497Cys
ENST00000330883.9:c.471G>C	ENSP00000328531.4:p.Trp157Cys
ENST00000262186.9:c.1491G>C	ENSP00000262186.5:p.Trp497Cys
ENST00000330883.8:c.471G>C	ENSP00000328531.4:p.Trp157Cys
ENST00000430723.4:c.1143G>C	ENSP00000387657.4:p.Trp381Cys
ENST00000461280.1:n.778G>C
ENST00000473610.5:n.796G>C
ENST00000532957.5:n.1714G>C
NM_000238.3:c.1491G>C , LRG_288t1:c.1491G>C	NP_000229.1:p.Trp497Cys
NM_001204798.1:c.471G>C	NP_001191727.1:p.Trp157Cys
NM_172056.2:c.1491G>C , LRG_288t2:c.1491G>C	NP_742053.1:p.Trp497Cys
NM_172057.2:c.471G>C , LRG_288t3:c.471G>C	NP_742054.1:p.Trp157Cys
XM_011516185.1:c.1191G>C	XP_011514487.1:p.Trp397Cys
XM_011516186.1:c.1491G>C	XP_011514488.1:p.Trp497Cys
XM_011516185.2:c.1191G>C	XP_011514487.1:p.Trp397Cys
XM_011516186.3:c.1491G>C	XP_011514488.1:p.Trp497Cys
XM_017012195.1:c.1341G>C	XP_016867684.1:p.Trp447Cys
XM_017012196.1:c.1314G>C	XP_016867685.1:p.Trp438Cys
NM_000238.4:c.1491G>C MANE Select	NP_000229.1:p.Trp497Cys
NM_001204798.2:c.471G>C	NP_001191727.1:p.Trp157Cys
NM_172057.3:c.471G>C	NP_742054.1:p.Trp157Cys