Canonical Allele Identifier: CA369853118

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150644732T>G (hg19) ; chr7:g.150947644T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947644T>G , CM000669.2:g.150947644T>G	GRCh38
NC_000007.13:g.150644732T>G , CM000669.1:g.150644732T>G	GRCh37
NC_000007.12:g.150275665T>G	NCBI36
NG_008916.1:g.35283A>C , LRG_288:g.35283A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3760A>C
ENST00000262186.10:c.2927A>C MANE Select	ENSP00000262186.5:p.Asp976Ala
ENST00000330883.9:c.1907A>C	ENSP00000328531.4:p.Asp636Ala
ENST00000262186.9:c.2927A>C	ENSP00000262186.5:p.Asp976Ala
ENST00000330883.8:c.1907A>C	ENSP00000328531.4:p.Asp636Ala
NM_000238.3:c.2927A>C , LRG_288t1:c.2927A>C	NP_000229.1:p.Asp976Ala
NM_172057.2:c.1907A>C , LRG_288t3:c.1907A>C	NP_742054.1:p.Asp636Ala
XM_011516185.1:c.2627A>C	XP_011514487.1:p.Asp876Ala
XM_011516186.1:c.*7A>C	XP_011514488.1:n.*7A>C
XM_011516185.2:c.2627A>C	XP_011514487.1:p.Asp876Ala
XM_011516186.3:c.*7A>C	XP_011514488.1:n.*7A>C
XM_017012195.1:c.2777A>C	XP_016867684.1:p.Asp926Ala
XM_017012196.1:c.2750A>C	XP_016867685.1:p.Asp917Ala
NM_000238.4:c.2927A>C MANE Select	NP_000229.1:p.Asp976Ala
NM_172057.3:c.1907A>C	NP_742054.1:p.Asp636Ala