Canonical Allele Identifier: CA369852021

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150644010C>G (hg19) ; chr7:g.150946922C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150946922C>G , CM000669.2:g.150946922C>G	GRCh38
NC_000007.13:g.150644010C>G , CM000669.1:g.150644010C>G	GRCh37
NC_000007.12:g.150274943C>G	NCBI36
NG_008916.1:g.36005G>C , LRG_288:g.36005G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.4118G>C
ENST00000262186.10:c.3285G>C MANE Select	ENSP00000262186.5:p.Leu1095Phe
ENST00000330883.9:c.2265G>C	ENSP00000328531.4:p.Leu755Phe
ENST00000262186.9:c.3285G>C	ENSP00000262186.5:p.Leu1095Phe
ENST00000330883.8:c.2265G>C	ENSP00000328531.4:p.Leu755Phe
NM_000238.3:c.3285G>C , LRG_288t1:c.3285G>C	NP_000229.1:p.Leu1095Phe
NM_172057.2:c.2265G>C , LRG_288t3:c.2265G>C	NP_742054.1:p.Leu755Phe
XM_011516185.1:c.2985G>C	XP_011514487.1:p.Leu995Phe
XM_011516185.2:c.2985G>C	XP_011514487.1:p.Leu995Phe
XM_017012195.1:c.3135G>C	XP_016867684.1:p.Leu1045Phe
XM_017012196.1:c.3108G>C	XP_016867685.1:p.Leu1036Phe
NM_000238.4:c.3285G>C MANE Select	NP_000229.1:p.Leu1095Phe
NM_172057.3:c.2265G>C	NP_742054.1:p.Leu755Phe