Canonical Allele Identifier: CA369852972

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150644578A>G (hg19) ; chr7:g.150947490A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947490A>G , CM000669.2:g.150947490A>G	GRCh38
NC_000007.13:g.150644578A>G , CM000669.1:g.150644578A>G	GRCh37
NC_000007.12:g.150275511A>G	NCBI36
NG_008916.1:g.35437T>C , LRG_288:g.35437T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3823T>C
ENST00000262186.10:c.2990T>C MANE Select	ENSP00000262186.5:p.Ile997Thr
ENST00000330883.9:c.1970T>C	ENSP00000328531.4:p.Ile657Thr
ENST00000262186.9:c.2990T>C	ENSP00000262186.5:p.Ile997Thr
ENST00000330883.8:c.1970T>C	ENSP00000328531.4:p.Ile657Thr
NM_000238.3:c.2990T>C , LRG_288t1:c.2990T>C	NP_000229.1:p.Ile997Thr
NM_172057.2:c.1970T>C , LRG_288t3:c.1970T>C	NP_742054.1:p.Ile657Thr
XM_011516185.1:c.2690T>C	XP_011514487.1:p.Ile897Thr
XM_011516186.1:c.*70T>C	XP_011514488.1:n.*70T>C
XM_011516185.2:c.2690T>C	XP_011514487.1:p.Ile897Thr
XM_011516186.3:c.*70T>C	XP_011514488.1:n.*70T>C
XM_017012195.1:c.2840T>C	XP_016867684.1:p.Ile947Thr
XM_017012196.1:c.2813T>C	XP_016867685.1:p.Ile938Thr
NM_000238.4:c.2990T>C MANE Select	NP_000229.1:p.Ile997Thr
NM_172057.3:c.1970T>C	NP_742054.1:p.Ile657Thr