Canonical Allele Identifier: CA369863769

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150656747A>G (hg19) ; chr7:g.150959659A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150959659A>G , CM000669.2:g.150959659A>G	GRCh38
NC_000007.13:g.150656747A>G , CM000669.1:g.150656747A>G	GRCh37
NC_000007.12:g.150287680A>G	NCBI36
NG_008916.1:g.23268T>C , LRG_288:g.23268T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1218T>C
ENST00000262186.10:c.385T>C MANE Select	ENSP00000262186.5:p.Phe129Leu
ENST00000262186.9:c.385T>C	ENSP00000262186.5:p.Phe129Leu
ENST00000430723.4:c.208T>C	ENSP00000387657.4:p.Phe70Leu
ENST00000532957.5:n.608T>C
NM_000238.3:c.385T>C , LRG_288t1:c.385T>C	NP_000229.1:p.Phe129Leu
NM_172056.2:c.385T>C , LRG_288t2:c.385T>C	NP_742053.1:p.Phe129Leu
XM_011516185.1:c.85T>C	XP_011514487.1:p.Phe29Leu
XM_011516186.1:c.385T>C	XP_011514488.1:p.Phe129Leu
XM_011516185.2:c.85T>C	XP_011514487.1:p.Phe29Leu
XM_011516186.3:c.385T>C	XP_011514488.1:p.Phe129Leu
XM_017012195.1:c.235T>C	XP_016867684.1:p.Phe79Leu
XM_017012196.1:c.208T>C	XP_016867685.1:p.Phe70Leu
NM_000238.4:c.385T>C MANE Select	NP_000229.1:p.Phe129Leu