Canonical Allele Identifier: CA349221166

Gene: KCNH7

Linked Data

• MyVariant Identifiers: chr2:g.163291943A>C (hg19) ; chr2:g.162435433A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.162435433A>C , CM000664.2:g.162435433A>C	GRCh38
NC_000002.11:g.163291943A>C , CM000664.1:g.163291943A>C	GRCh37
NC_000002.10:g.163000189A>C	NCBI36
NG_041938.1:g.408315T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000332142.10:c.1719T>G MANE Select	ENSP00000331727.5:p.Ile573Met
ENST00000328032.8:c.1698T>G	ENSP00000333781.4:p.Ile566Met
ENST00000332142.9:c.1719T>G	ENSP00000331727.5:p.Ile573Met
ENST00000618399.4:c.1419T>G	ENSP00000482818.1:p.Ile473Met
ENST00000621889.1:c.1392T>G	ENSP00000483158.1:p.Ile464Met
NM_033272.3:c.1719T>G	NP_150375.2:p.Ile573Met
NM_173162.2:c.1698T>G	NP_775185.1:p.Ile566Met
XM_011512109.1:c.1743T>G	XP_011510411.1:p.Ile581Met
XM_011512109.3:c.1743T>G	XP_011510411.1:p.Ile581Met
XM_017005218.2:c.1743T>G	XP_016860707.1:p.Ile581Met
XM_017005219.2:c.1719T>G	XP_016860708.1:p.Ile573Met
XM_017005220.2:c.1698T>G	XP_016860709.1:p.Ile566Met
XM_017005221.2:c.1743T>G	XP_016860710.1:p.Ile581Met
NM_033272.4:c.1719T>G MANE Select	NP_150375.2:p.Ile573Met
NM_173162.3:c.1698T>G	NP_775185.1:p.Ile566Met