Canonical Allele Identifier: CA1935636

Gene: KCNH7

Linked Data

• dbSNP Id: rs747602594
• ExAC: 2:163291929 C / CTTTCTCTTCTGTTGTCTATTAGGATAGAATAATACCTTGAAATTAATA
• MyVariant Identifiers: chr2:g.163291929_163291930insTTTCTCTTCTGTTGTCTATTAGGATAGAATAATACCTTGAAATTAATA (hg19) ; chr2:g.162435419_162435420insTTTCTCTTCTGTTGTCTATTAGGATAGAATAATACCTTGAAATTAATA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.162435424_162435425insCTTCTGTTGTCTATTAGGATAGAATAATACCTTGAAATTAATATTTCT , CM000664.2:g.162435424_162435425insCTTCTGTTGTCTATTAGGATAGAATAATACCTTGAAATTAATATTTCT	GRCh38
NC_000002.11:g.163291934_163291935insCTTCTGTTGTCTATTAGGATAGAATAATACCTTGAAATTAATATTTCT , CM000664.1:g.163291934_163291935insCTTCTGTTGTCTATTAGGATAGAATAATACCTTGAAATTAATATTTCT	GRCh37
NC_000002.10:g.163000180_163000181insCTTCTGTTGTCTATTAGGATAGAATAATACCTTGAAATTAATATTTCT	NCBI36
NG_041938.1:g.408328_408329insTATTAATTTCAAGGTATTATTCTATCCTAATAGACAACAGAAGAGAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000332142.10:c.1732_1733insTATTAATTTCAAGGTATTATTCTATCCTAATAGACAACAGAAGAGAAA MANE Select	ENSP00000331727.5:p.Glu577_Arg578insIleLeuIleSerArgTyrTyrSerI...
ENST00000328032.8:c.1711_1712insTATTAATTTCAAGGTATTATTCTATCCTAATAGACAACAGAAGAGAAA	ENSP00000333781.4:p.Glu570_Arg571insIleLeuIleSerArgTyrTyrSerI...
ENST00000332142.9:c.1732_1733insTATTAATTTCAAGGTATTATTCTATCCTAATAGACAACAGAAGAGAAA	ENSP00000331727.5:p.Glu577_Arg578insIleLeuIleSerArgTyrTyrSerI...
ENST00000618399.4:c.1432_1433insTATTAATTTCAAGGTATTATTCTATCCTAATAGACAACAGAAGAGAAA	ENSP00000482818.1:p.Glu477_Arg478insIleLeuIleSerArgTyrTyrSerI...
ENST00000621889.1:c.1405_1406insTATTAATTTCAAGGTATTATTCTATCCTAATAGACAACAGAAGAGAAA	ENSP00000483158.1:p.Glu468_Arg469insIleLeuIleSerArgTyrTyrSerI...
NM_033272.3:c.1732_1733insTATTAATTTCAAGGTATTATTCTATCCTAATAGACAACAGAAGAGAAA	NP_150375.2:p.Glu577_Arg578insIleLeuIleSerArgTyrTyrSerIleLeuI...
NM_173162.2:c.1711_1712insTATTAATTTCAAGGTATTATTCTATCCTAATAGACAACAGAAGAGAAA	NP_775185.1:p.Glu570_Arg571insIleLeuIleSerArgTyrTyrSerIleLeuI...
XM_011512109.1:c.1756_1757insTATTAATTTCAAGGTATTATTCTATCCTAATAGACAACAGAAGAGAAA	XP_011510411.1:p.Glu585_Arg586insIleLeuIleSerArgTyrTyrSerIleL...
XM_011512109.3:c.1756_1757insTATTAATTTCAAGGTATTATTCTATCCTAATAGACAACAGAAGAGAAA	XP_011510411.1:p.Glu585_Arg586insIleLeuIleSerArgTyrTyrSerIleL...
XM_017005218.2:c.1756_1757insTATTAATTTCAAGGTATTATTCTATCCTAATAGACAACAGAAGAGAAA	XP_016860707.1:p.Glu585_Arg586insIleLeuIleSerArgTyrTyrSerIleL...
XM_017005219.2:c.1732_1733insTATTAATTTCAAGGTATTATTCTATCCTAATAGACAACAGAAGAGAAA	XP_016860708.1:p.Glu577_Arg578insIleLeuIleSerArgTyrTyrSerIleL...
XM_017005220.2:c.1711_1712insTATTAATTTCAAGGTATTATTCTATCCTAATAGACAACAGAAGAGAAA	XP_016860709.1:p.Glu570_Arg571insIleLeuIleSerArgTyrTyrSerIleL...
XM_017005221.2:c.1756_1757insTATTAATTTCAAGGTATTATTCTATCCTAATAGACAACAGAAGAGAAA	XP_016860710.1:p.Glu585_Arg586insIleLeuIleSerArgTyrTyrSerIleL...
NM_033272.4:c.1732_1733insTATTAATTTCAAGGTATTATTCTATCCTAATAGACAACAGAAGAGAAA MANE Select	NP_150375.2:p.Glu577_Arg578insIleLeuIleSerArgTyrTyrSerIleLeuI...
NM_173162.3:c.1711_1712insTATTAATTTCAAGGTATTATTCTATCCTAATAGACAACAGAAGAGAAA	NP_775185.1:p.Glu570_Arg571insIleLeuIleSerArgTyrTyrSerIleLeuI...