Canonical Allele Identifier: CA369851414

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150642493G>A (hg19) ; chr7:g.150945405G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150945405G>A , CM000669.2:g.150945405G>A	GRCh38
NC_000007.13:g.150642493G>A , CM000669.1:g.150642493G>A	GRCh37
NC_000007.12:g.150273426G>A	NCBI36
NG_008916.1:g.37522C>T , LRG_288:g.37522C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.4273C>T
ENST00000262186.10:c.3440C>T MANE Select	ENSP00000262186.5:p.Ser1147Phe
ENST00000330883.9:c.2420C>T	ENSP00000328531.4:p.Ser807Phe
ENST00000262186.9:c.3440C>T	ENSP00000262186.5:p.Ser1147Phe
ENST00000330883.8:c.2420C>T	ENSP00000328531.4:p.Ser807Phe
NM_000238.3:c.3440C>T , LRG_288t1:c.3440C>T	NP_000229.1:p.Ser1147Phe
NM_172057.2:c.2420C>T , LRG_288t3:c.2420C>T	NP_742054.1:p.Ser807Phe
XM_011516185.1:c.3140C>T	XP_011514487.1:p.Ser1047Phe
XM_011516185.2:c.3140C>T	XP_011514487.1:p.Ser1047Phe
XM_017012195.1:c.3290C>T	XP_016867684.1:p.Ser1097Phe
XM_017012196.1:c.3263C>T	XP_016867685.1:p.Ser1088Phe
NM_000238.4:c.3440C>T MANE Select	NP_000229.1:p.Ser1147Phe
NM_172057.3:c.2420C>T	NP_742054.1:p.Ser807Phe