Canonical Allele Identifier: CA349221189

Gene: KCNH7

Linked Data

• MyVariant Identifiers: chr2:g.163291952C>A (hg19) ; chr2:g.162435442C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.162435442C>A , CM000664.2:g.162435442C>A	GRCh38
NC_000002.11:g.163291952C>A , CM000664.1:g.163291952C>A	GRCh37
NC_000002.10:g.163000198C>A	NCBI36
NG_041938.1:g.408306G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000332142.10:c.1710G>T MANE Select	ENSP00000331727.5:p.Trp570Cys
ENST00000328032.8:c.1689G>T	ENSP00000333781.4:p.Trp563Cys
ENST00000332142.9:c.1710G>T	ENSP00000331727.5:p.Trp570Cys
ENST00000618399.4:c.1410G>T	ENSP00000482818.1:p.Trp470Cys
ENST00000621889.1:c.1383G>T	ENSP00000483158.1:p.Trp461Cys
NM_033272.3:c.1710G>T	NP_150375.2:p.Trp570Cys
NM_173162.2:c.1689G>T	NP_775185.1:p.Trp563Cys
XM_011512109.1:c.1734G>T	XP_011510411.1:p.Trp578Cys
XM_011512109.3:c.1734G>T	XP_011510411.1:p.Trp578Cys
XM_017005218.2:c.1734G>T	XP_016860707.1:p.Trp578Cys
XM_017005219.2:c.1710G>T	XP_016860708.1:p.Trp570Cys
XM_017005220.2:c.1689G>T	XP_016860709.1:p.Trp563Cys
XM_017005221.2:c.1734G>T	XP_016860710.1:p.Trp578Cys
NM_033272.4:c.1710G>T MANE Select	NP_150375.2:p.Trp570Cys
NM_173162.3:c.1689G>T	NP_775185.1:p.Trp563Cys