Canonical Allele Identifier: CA375506864

Gene: KCNT1

Linked Data

• MyVariant Identifiers: chr9:g.138662287A>C (hg19) ; chr9:g.135770441A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135770441A>C , CM000671.2:g.135770441A>C	GRCh38
NC_000009.11:g.138662287A>C , CM000671.1:g.138662287A>C	GRCh37
NC_000009.10:g.137802108A>C	NCBI36
NG_033070.1:g.73257A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.1763A>C MANE Select	ENSP00000360822.2:p.His588Pro
ENST00000674572.1:c.1604A>C	ENSP00000501742.1:p.His535Pro
ENST00000675090.1:c.1511A>C	ENSP00000501833.1:p.His504Pro
ENST00000675399.1:c.1511A>C	ENSP00000501932.1:p.His504Pro
ENST00000676421.1:c.1520A>C	ENSP00000502322.1:p.His507Pro
ENST00000263604.5:c.1664A>C	ENSP00000263604.4:p.His555Pro
ENST00000371757.6:c.1763A>C	ENSP00000360822.2:p.His588Pro
ENST00000460750.5:c.*1373A>C	ENSP00000418777.1:n.*1373A>C
ENST00000486577.6:c.1646A>C	ENSP00000417578.3:p.His549Pro
ENST00000487664.5:c.1763A>C	ENSP00000417851.2:p.His588Pro
ENST00000488444.6:c.1706A>C	ENSP00000419007.3:p.His569Pro
ENST00000490355.6:c.1706A>C	ENSP00000418003.3:p.His569Pro
ENST00000490363.3:n.1582A>C
ENST00000491806.6:c.1706A>C	ENSP00000419086.3:p.His569Pro
ENST00000628528.2:c.1628A>C	ENSP00000486374.1:p.His543Pro
ENST00000630792.2:c.1604A>C	ENSP00000486486.1:p.His535Pro
ENST00000631073.2:c.1706A>C	ENSP00000486130.1:p.His569Pro
NM_001272003.1:c.1628A>C	NP_001258932.1:p.His543Pro
NM_020822.2:c.1763A>C	NP_065873.2:p.His588Pro
XM_011518877.1:c.1898A>C	XP_011517179.1:p.His633Pro
XM_011518878.1:c.1907A>C	XP_011517180.1:p.His636Pro
XM_011518879.1:c.1898A>C	XP_011517181.1:p.His633Pro
XM_011518880.1:c.1664A>C	XP_011517182.1:p.His555Pro
XM_011518881.1:c.1253A>C	XP_011517183.1:p.His418Pro
XM_011518877.3:c.1898A>C	XP_011517179.1:p.His633Pro
XM_011518878.3:c.1907A>C	XP_011517180.1:p.His636Pro
XM_011518879.3:c.1898A>C	XP_011517181.1:p.His633Pro
XM_011518881.3:c.1253A>C	XP_011517183.1:p.His418Pro
XM_017014931.1:c.1697A>C	XP_016870420.1:p.His566Pro
XM_017014932.1:c.1520A>C	XP_016870421.1:p.His507Pro
XM_017014933.1:c.1253A>C	XP_016870422.1:p.His418Pro
XM_024447617.1:c.1253A>C	XP_024303385.1:p.His418Pro
XM_024447618.1:c.1253A>C	XP_024303386.1:p.His418Pro
NM_020822.3:c.1763A>C MANE Select	NP_065873.2:p.His588Pro
NM_001272003.2:c.1628A>C	NP_001258932.1:p.His543Pro