Canonical Allele Identifier: CA2661696322

Gene: KCNH7

Linked Data

• gnomAD v4: 2-162435483-ACATT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.162435484_162435487del , CM000664.2:g.162435484_162435487del	GRCh38
NC_000002.11:g.163291994_163291997del , CM000664.1:g.163291994_163291997del	GRCh37
NC_000002.10:g.163000240_163000243del	NCBI36
NG_041938.1:g.408261_408264del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000332142.10:c.1665_1668del MANE Select	ENSP00000331727.5:p.Leu555PhefsTer6
ENST00000328032.8:c.1644_1647del	ENSP00000333781.4:p.Leu548PhefsTer6
ENST00000332142.9:c.1665_1668del	ENSP00000331727.5:p.Leu555PhefsTer6
ENST00000618399.4:c.1365_1368del	ENSP00000482818.1:p.Leu455PhefsTer6
ENST00000621889.1:c.1338_1341del	ENSP00000483158.1:p.Leu446PhefsTer6
NM_033272.3:c.1665_1668del	NP_150375.2:p.Leu555PhefsTer6
NM_173162.2:c.1644_1647del	NP_775185.1:p.Leu548PhefsTer6
XM_011512109.1:c.1689_1692del	XP_011510411.1:p.Leu563PhefsTer6
XM_011512109.3:c.1689_1692del	XP_011510411.1:p.Leu563PhefsTer6
XM_017005218.2:c.1689_1692del	XP_016860707.1:p.Leu563PhefsTer6
XM_017005219.2:c.1665_1668del	XP_016860708.1:p.Leu555PhefsTer6
XM_017005220.2:c.1644_1647del	XP_016860709.1:p.Leu548PhefsTer6
XM_017005221.2:c.1689_1692del	XP_016860710.1:p.Leu563PhefsTer6
NM_033272.4:c.1665_1668del MANE Select	NP_150375.2:p.Leu555PhefsTer6
NM_173162.3:c.1644_1647del	NP_775185.1:p.Leu548PhefsTer6