Canonical Allele Identifier: CA458646091

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150654564A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150957476A>G , CM000669.2:g.150957476A>G	GRCh38
NC_000007.13:g.150654564A>G , CM000669.1:g.150654564A>G	GRCh37
NC_000007.12:g.150285497A>G	NCBI36
NG_008916.1:g.25451T>C , LRG_288:g.25451T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1776T>C
ENST00000262186.10:c.943T>C MANE Select	ENSP00000262186.5:p.Leu315=
ENST00000262186.9:c.943T>C	ENSP00000262186.5:p.Leu315=
ENST00000430723.4:c.595T>C	ENSP00000387657.4:p.Leu199=
ENST00000532957.5:n.1166T>C
NM_000238.3:c.943T>C , LRG_288t1:c.943T>C	NP_000229.1:p.Leu315=
NM_172056.2:c.943T>C , LRG_288t2:c.943T>C	NP_742053.1:p.Leu315=
XM_011516185.1:c.643T>C	XP_011514487.1:p.Leu215=
XM_011516186.1:c.943T>C	XP_011514488.1:p.Leu315=
XM_011516185.2:c.643T>C	XP_011514487.1:p.Leu215=
XM_011516186.3:c.943T>C	XP_011514488.1:p.Leu315=
XM_017012195.1:c.793T>C	XP_016867684.1:p.Leu265=
XM_017012196.1:c.766T>C	XP_016867685.1:p.Leu256=
NM_000238.4:c.943T>C MANE Select	NP_000229.1:p.Leu315=