Canonical Allele Identifier: CA369851415

Gene: KCNH2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.4273C>G
ENST00000262186.10:c.3440C>G MANE Select	ENSP00000262186.5:p.Ser1147Cys
ENST00000330883.9:c.2420C>G	ENSP00000328531.4:p.Ser807Cys
ENST00000262186.9:c.3440C>G	ENSP00000262186.5:p.Ser1147Cys
ENST00000330883.8:c.2420C>G	ENSP00000328531.4:p.Ser807Cys
NM_000238.3:c.3440C>G , LRG_288t1:c.3440C>G	NP_000229.1:p.Ser1147Cys
NM_172057.2:c.2420C>G , LRG_288t3:c.2420C>G	NP_742054.1:p.Ser807Cys
XM_011516185.1:c.3140C>G	XP_011514487.1:p.Ser1047Cys
XM_011516185.2:c.3140C>G	XP_011514487.1:p.Ser1047Cys
XM_017012195.1:c.3290C>G	XP_016867684.1:p.Ser1097Cys
XM_017012196.1:c.3263C>G	XP_016867685.1:p.Ser1088Cys
NM_000238.4:c.3440C>G MANE Select	NP_000229.1:p.Ser1147Cys
NM_172057.3:c.2420C>G	NP_742054.1:p.Ser807Cys