Canonical Allele Identifier: CA369851421

Gene: KCNH2

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150945408G>C , CM000669.2:g.150945408G>C	GRCh38
NC_000007.13:g.150642496G>C , CM000669.1:g.150642496G>C	GRCh37
NC_000007.12:g.150273429G>C	NCBI36
NG_008916.1:g.37519C>G , LRG_288:g.37519C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.4270C>G
ENST00000262186.10:c.3437C>G MANE Select	ENSP00000262186.5:p.Thr1146Ser
ENST00000330883.9:c.2417C>G	ENSP00000328531.4:p.Thr806Ser
ENST00000262186.9:c.3437C>G	ENSP00000262186.5:p.Thr1146Ser
ENST00000330883.8:c.2417C>G	ENSP00000328531.4:p.Thr806Ser
NM_000238.3:c.3437C>G , LRG_288t1:c.3437C>G	NP_000229.1:p.Thr1146Ser
NM_172057.2:c.2417C>G , LRG_288t3:c.2417C>G	NP_742054.1:p.Thr806Ser
XM_011516185.1:c.3137C>G	XP_011514487.1:p.Thr1046Ser
XM_011516185.2:c.3137C>G	XP_011514487.1:p.Thr1046Ser
XM_017012195.1:c.3287C>G	XP_016867684.1:p.Thr1096Ser
XM_017012196.1:c.3260C>G	XP_016867685.1:p.Thr1087Ser
NM_000238.4:c.3437C>G MANE Select	NP_000229.1:p.Thr1146Ser
NM_172057.3:c.2417C>G	NP_742054.1:p.Thr806Ser