Canonical Allele Identifier: CA369863889

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150656806A>G (hg19) ; chr7:g.150959718A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150959718A>G , CM000669.2:g.150959718A>G	GRCh38
NC_000007.13:g.150656806A>G , CM000669.1:g.150656806A>G	GRCh37
NC_000007.12:g.150287739A>G	NCBI36
NG_008916.1:g.23209T>C , LRG_288:g.23209T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1159T>C
ENST00000262186.10:c.326T>C MANE Select	ENSP00000262186.5:p.Leu109Pro
ENST00000262186.9:c.326T>C	ENSP00000262186.5:p.Leu109Pro
ENST00000430723.4:c.149T>C	ENSP00000387657.4:p.Leu50Pro
ENST00000532957.5:n.549T>C
NM_000238.3:c.326T>C , LRG_288t1:c.326T>C	NP_000229.1:p.Leu109Pro
NM_172056.2:c.326T>C , LRG_288t2:c.326T>C	NP_742053.1:p.Leu109Pro
XM_011516185.1:c.26T>C	XP_011514487.1:p.Leu9Pro
XM_011516186.1:c.326T>C	XP_011514488.1:p.Leu109Pro
XM_011516185.2:c.26T>C	XP_011514487.1:p.Leu9Pro
XM_011516186.3:c.326T>C	XP_011514488.1:p.Leu109Pro
XM_017012195.1:c.176T>C	XP_016867684.1:p.Leu59Pro
XM_017012196.1:c.149T>C	XP_016867685.1:p.Leu50Pro
NM_000238.4:c.326T>C MANE Select	NP_000229.1:p.Leu109Pro