Canonical Allele Identifier: CA369851423

Gene: KCNH2

Linked Data

• dbSNP Id: rs778879572
• MyVariant Identifiers: chr7:g.150642497T>G (hg19) ; chr7:g.150945409T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150945409T>G , CM000669.2:g.150945409T>G	GRCh38
NC_000007.13:g.150642497T>G , CM000669.1:g.150642497T>G	GRCh37
NC_000007.12:g.150273430T>G	NCBI36
NG_008916.1:g.37518A>C , LRG_288:g.37518A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.4269A>C
ENST00000262186.10:c.3436A>C MANE Select	ENSP00000262186.5:p.Thr1146Pro
ENST00000330883.9:c.2416A>C	ENSP00000328531.4:p.Thr806Pro
ENST00000262186.9:c.3436A>C	ENSP00000262186.5:p.Thr1146Pro
ENST00000330883.8:c.2416A>C	ENSP00000328531.4:p.Thr806Pro
NM_000238.3:c.3436A>C , LRG_288t1:c.3436A>C	NP_000229.1:p.Thr1146Pro
NM_172057.2:c.2416A>C , LRG_288t3:c.2416A>C	NP_742054.1:p.Thr806Pro
XM_011516185.1:c.3136A>C	XP_011514487.1:p.Thr1046Pro
XM_011516185.2:c.3136A>C	XP_011514487.1:p.Thr1046Pro
XM_017012195.1:c.3286A>C	XP_016867684.1:p.Thr1096Pro
XM_017012196.1:c.3259A>C	XP_016867685.1:p.Thr1087Pro
NM_000238.4:c.3436A>C MANE Select	NP_000229.1:p.Thr1146Pro
NM_172057.3:c.2416A>C	NP_742054.1:p.Thr806Pro