Canonical Allele Identifier: CA369852968

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150644576A>G (hg19) ; chr7:g.150947488A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947488A>G , CM000669.2:g.150947488A>G	GRCh38
NC_000007.13:g.150644576A>G , CM000669.1:g.150644576A>G	GRCh37
NC_000007.12:g.150275509A>G	NCBI36
NG_008916.1:g.35439T>C , LRG_288:g.35439T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3825T>C
ENST00000262186.10:c.2992T>C MANE Select	ENSP00000262186.5:p.Phe998Leu
ENST00000330883.9:c.1972T>C	ENSP00000328531.4:p.Phe658Leu
ENST00000262186.9:c.2992T>C	ENSP00000262186.5:p.Phe998Leu
ENST00000330883.8:c.1972T>C	ENSP00000328531.4:p.Phe658Leu
NM_000238.3:c.2992T>C , LRG_288t1:c.2992T>C	NP_000229.1:p.Phe998Leu
NM_172057.2:c.1972T>C , LRG_288t3:c.1972T>C	NP_742054.1:p.Phe658Leu
XM_011516185.1:c.2692T>C	XP_011514487.1:p.Phe898Leu
XM_011516186.1:c.*72T>C	XP_011514488.1:n.*72T>C
XM_011516185.2:c.2692T>C	XP_011514487.1:p.Phe898Leu
XM_011516186.3:c.*72T>C	XP_011514488.1:n.*72T>C
XM_017012195.1:c.2842T>C	XP_016867684.1:p.Phe948Leu
XM_017012196.1:c.2815T>C	XP_016867685.1:p.Phe939Leu
NM_000238.4:c.2992T>C MANE Select	NP_000229.1:p.Phe998Leu
NM_172057.3:c.1972T>C	NP_742054.1:p.Phe658Leu