Canonical Allele Identifier: CA369853778

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150645586C>A (hg19) ; chr7:g.150948498C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948498C>A , CM000669.2:g.150948498C>A	GRCh38
NC_000007.13:g.150645586C>A , CM000669.1:g.150645586C>A	GRCh37
NC_000007.12:g.150276519C>A	NCBI36
NG_008916.1:g.34429G>T , LRG_288:g.34429G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3471G>T
ENST00000262186.10:c.2638G>T MANE Select	ENSP00000262186.5:p.Gly880Cys
ENST00000330883.9:c.1618G>T	ENSP00000328531.4:p.Gly540Cys
ENST00000262186.9:c.2638G>T	ENSP00000262186.5:p.Gly880Cys
ENST00000330883.8:c.1618G>T	ENSP00000328531.4:p.Gly540Cys
NM_000238.3:c.2638G>T , LRG_288t1:c.2638G>T	NP_000229.1:p.Gly880Cys
NM_172057.2:c.1618G>T , LRG_288t3:c.1618G>T	NP_742054.1:p.Gly540Cys
XM_011516185.1:c.2338G>T	XP_011514487.1:p.Gly780Cys
XM_011516186.1:c.2638G>T	XP_011514488.1:p.Gly880Cys
XM_011516185.2:c.2338G>T	XP_011514487.1:p.Gly780Cys
XM_011516186.3:c.2638G>T	XP_011514488.1:p.Gly880Cys
XM_017012195.1:c.2488G>T	XP_016867684.1:p.Gly830Cys
XM_017012196.1:c.2461G>T	XP_016867685.1:p.Gly821Cys
NM_000238.4:c.2638G>T MANE Select	NP_000229.1:p.Gly880Cys
NM_172057.3:c.1618G>T	NP_742054.1:p.Gly540Cys