Canonical Allele Identifier: CA5326826

Gene: KCNT1

Linked Data

• dbSNP Id: rs753444830
• ExAC: 9:138657473 T / C
• gnomAD v2: 9-138657473-T-C
• gnomAD v4: 9-135765627-T-C
• MyVariant Identifiers: chr9:g.138657473T>C (hg19) ; chr9:g.135765627T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135765627T>C , CM000671.2:g.135765627T>C	GRCh38
NC_000009.11:g.138657473T>C , CM000671.1:g.138657473T>C	GRCh37
NC_000009.10:g.137797294T>C	NCBI36
NG_033070.1:g.68443T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.1204T>C MANE Select	ENSP00000360822.2:p.Tyr402His
ENST00000674572.1:c.1045T>C	ENSP00000501742.1:p.Tyr349His
ENST00000675090.1:c.952T>C	ENSP00000501833.1:p.Tyr318His
ENST00000675399.1:c.952T>C	ENSP00000501932.1:p.Tyr318His
ENST00000676421.1:c.961T>C	ENSP00000502322.1:p.Tyr321His
ENST00000263604.5:c.1105T>C	ENSP00000263604.4:p.Tyr369His
ENST00000371757.6:c.1204T>C	ENSP00000360822.2:p.Tyr402His
ENST00000460750.5:c.*814T>C	ENSP00000418777.1:n.*814T>C
ENST00000486577.6:c.1087T>C	ENSP00000417578.3:p.Tyr363His
ENST00000487664.5:c.1204T>C	ENSP00000417851.2:p.Tyr402His
ENST00000488444.6:c.1147T>C	ENSP00000419007.3:p.Tyr383His
ENST00000490355.6:c.1147T>C	ENSP00000418003.3:p.Tyr383His
ENST00000490363.3:n.1023T>C
ENST00000491806.6:c.1147T>C	ENSP00000419086.3:p.Tyr383His
ENST00000628528.2:c.1069T>C	ENSP00000486374.1:p.Tyr357His
ENST00000630792.2:c.1045T>C	ENSP00000486486.1:p.Tyr349His
ENST00000631073.2:c.1147T>C	ENSP00000486130.1:p.Tyr383His
NM_001272003.1:c.1069T>C	NP_001258932.1:p.Tyr357His
NM_020822.2:c.1204T>C	NP_065873.2:p.Tyr402His
XM_011518877.1:c.1339T>C	XP_011517179.1:p.Tyr447His
XM_011518878.1:c.1348T>C	XP_011517180.1:p.Tyr450His
XM_011518879.1:c.1339T>C	XP_011517181.1:p.Tyr447His
XM_011518880.1:c.1105T>C	XP_011517182.1:p.Tyr369His
XM_011518881.1:c.694T>C	XP_011517183.1:p.Tyr232His
XM_011518877.3:c.1339T>C	XP_011517179.1:p.Tyr447His
XM_011518878.3:c.1348T>C	XP_011517180.1:p.Tyr450His
XM_011518879.3:c.1339T>C	XP_011517181.1:p.Tyr447His
XM_011518881.3:c.694T>C	XP_011517183.1:p.Tyr232His
XM_017014931.1:c.1138T>C	XP_016870420.1:p.Tyr380His
XM_017014932.1:c.961T>C	XP_016870421.1:p.Tyr321His
XM_017014933.1:c.694T>C	XP_016870422.1:p.Tyr232His
XM_024447617.1:c.694T>C	XP_024303385.1:p.Tyr232His
XM_024447618.1:c.694T>C	XP_024303386.1:p.Tyr232His
NM_020822.3:c.1204T>C MANE Select	NP_065873.2:p.Tyr402His
NM_001272003.2:c.1069T>C	NP_001258932.1:p.Tyr357His