Canonical Allele Identifier: CA369861582

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150654461A>C (hg19) ; chr7:g.150957373A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150957373A>C , CM000669.2:g.150957373A>C	GRCh38
NC_000007.13:g.150654461A>C , CM000669.1:g.150654461A>C	GRCh37
NC_000007.12:g.150285394A>C	NCBI36
NG_008916.1:g.25554T>G , LRG_288:g.25554T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1879T>G
ENST00000262186.10:c.1046T>G MANE Select	ENSP00000262186.5:p.Leu349Trp
ENST00000262186.9:c.1046T>G	ENSP00000262186.5:p.Leu349Trp
ENST00000430723.4:c.698T>G	ENSP00000387657.4:p.Leu233Trp
ENST00000532957.5:n.1269T>G
NM_000238.3:c.1046T>G , LRG_288t1:c.1046T>G	NP_000229.1:p.Leu349Trp
NM_172056.2:c.1046T>G , LRG_288t2:c.1046T>G	NP_742053.1:p.Leu349Trp
XM_011516185.1:c.746T>G	XP_011514487.1:p.Leu249Trp
XM_011516186.1:c.1046T>G	XP_011514488.1:p.Leu349Trp
XM_011516185.2:c.746T>G	XP_011514487.1:p.Leu249Trp
XM_011516186.3:c.1046T>G	XP_011514488.1:p.Leu349Trp
XM_017012195.1:c.896T>G	XP_016867684.1:p.Leu299Trp
XM_017012196.1:c.869T>G	XP_016867685.1:p.Leu290Trp
NM_000238.4:c.1046T>G MANE Select	NP_000229.1:p.Leu349Trp