Canonical Allele Identifier: CA369861491

Gene: KCNH2

Linked Data

• COSMIC: COSM5757007 ; COSM5757008
• MyVariant Identifiers: chr7:g.150654417T>G (hg19) ; chr7:g.150957329T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150957329T>G , CM000669.2:g.150957329T>G	GRCh38
NC_000007.13:g.150654417T>G , CM000669.1:g.150654417T>G	GRCh37
NC_000007.12:g.150285350T>G	NCBI36
NG_008916.1:g.25598A>C , LRG_288:g.25598A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1923A>C
ENST00000262186.10:c.1090A>C MANE Select	ENSP00000262186.5:p.Lys364Gln
ENST00000262186.9:c.1090A>C	ENSP00000262186.5:p.Lys364Gln
ENST00000430723.4:c.742A>C	ENSP00000387657.4:p.Lys248Gln
ENST00000532957.5:n.1313A>C
NM_000238.3:c.1090A>C , LRG_288t1:c.1090A>C	NP_000229.1:p.Lys364Gln
NM_172056.2:c.1090A>C , LRG_288t2:c.1090A>C	NP_742053.1:p.Lys364Gln
XM_011516185.1:c.790A>C	XP_011514487.1:p.Lys264Gln
XM_011516186.1:c.1090A>C	XP_011514488.1:p.Lys364Gln
XM_011516185.2:c.790A>C	XP_011514487.1:p.Lys264Gln
XM_011516186.3:c.1090A>C	XP_011514488.1:p.Lys364Gln
XM_017012195.1:c.940A>C	XP_016867684.1:p.Lys314Gln
XM_017012196.1:c.913A>C	XP_016867685.1:p.Lys305Gln
NM_000238.4:c.1090A>C MANE Select	NP_000229.1:p.Lys364Gln