Canonical Allele Identifier: CA369855110

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150646052A>C (hg19) ; chr7:g.150948964A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948964A>C , CM000669.2:g.150948964A>C	GRCh38
NC_000007.13:g.150646052A>C , CM000669.1:g.150646052A>C	GRCh37
NC_000007.12:g.150276985A>C	NCBI36
NG_008916.1:g.33963T>G , LRG_288:g.33963T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3317T>G
ENST00000262186.10:c.2484T>G MANE Select	ENSP00000262186.5:p.Cys828Trp
ENST00000330883.9:c.1464T>G	ENSP00000328531.4:p.Cys488Trp
ENST00000262186.9:c.2484T>G	ENSP00000262186.5:p.Cys828Trp
ENST00000330883.8:c.1464T>G	ENSP00000328531.4:p.Cys488Trp
NM_000238.3:c.2484T>G , LRG_288t1:c.2484T>G	NP_000229.1:p.Cys828Trp
NM_172057.2:c.1464T>G , LRG_288t3:c.1464T>G	NP_742054.1:p.Cys488Trp
XM_011516185.1:c.2184T>G	XP_011514487.1:p.Cys728Trp
XM_011516186.1:c.2484T>G	XP_011514488.1:p.Cys828Trp
XM_011516185.2:c.2184T>G	XP_011514487.1:p.Cys728Trp
XM_011516186.3:c.2484T>G	XP_011514488.1:p.Cys828Trp
XM_017012195.1:c.2334T>G	XP_016867684.1:p.Cys778Trp
XM_017012196.1:c.2307T>G	XP_016867685.1:p.Cys769Trp
NM_000238.4:c.2484T>G MANE Select	NP_000229.1:p.Cys828Trp
NM_172057.3:c.1464T>G	NP_742054.1:p.Cys488Trp