Canonical Allele Identifier: CA375494690

Gene: KCNT1

Linked Data

• MyVariant Identifiers: chr9:g.138641946T>C (hg19) ; chr9:g.135750100T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135750100T>C , CM000671.2:g.135750100T>C	GRCh38
NC_000009.11:g.138641946T>C , CM000671.1:g.138641946T>C	GRCh37
NC_000009.10:g.137781767T>C	NCBI36
NG_033070.1:g.52916T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.257T>C MANE Select	ENSP00000360822.2:p.Val86Ala
ENST00000637018.1:n.62T>C
ENST00000674572.1:c.98T>C	ENSP00000501742.1:p.Val33Ala
ENST00000675090.1:c.5T>C	ENSP00000501833.1:p.Val2Ala
ENST00000675399.1:c.5T>C	ENSP00000501932.1:p.Val2Ala
ENST00000676421.1:c.5T>C	ENSP00000502322.1:p.Val2Ala
ENST00000263604.5:c.158T>C	ENSP00000263604.4:p.Val53Ala
ENST00000371757.6:c.257T>C	ENSP00000360822.2:p.Val86Ala
ENST00000460750.5:c.257T>C	ENSP00000418777.1:p.Val86Ala
ENST00000473941.5:c.98T>C	ENSP00000420764.1:p.Val33Ala
ENST00000486577.6:c.140T>C	ENSP00000417578.3:p.Val47Ala
ENST00000487664.5:c.257T>C	ENSP00000417851.2:p.Val86Ala
ENST00000488444.6:c.200T>C	ENSP00000419007.3:p.Val67Ala
ENST00000490355.6:c.200T>C	ENSP00000418003.3:p.Val67Ala
ENST00000491806.6:c.200T>C	ENSP00000419086.3:p.Val67Ala
ENST00000628528.2:c.113T>C	ENSP00000486374.1:p.Val38Ala
ENST00000630792.2:c.98T>C	ENSP00000486486.1:p.Val33Ala
ENST00000631073.2:c.200T>C	ENSP00000486130.1:p.Val67Ala
NM_001272003.1:c.113T>C	NP_001258932.1:p.Val38Ala
NM_020822.2:c.257T>C	NP_065873.2:p.Val86Ala
XM_011518877.1:c.392T>C	XP_011517179.1:p.Val131Ala
XM_011518878.1:c.392T>C	XP_011517180.1:p.Val131Ala
XM_011518879.1:c.392T>C	XP_011517181.1:p.Val131Ala
XM_011518880.1:c.158T>C	XP_011517182.1:p.Val53Ala
XM_011518877.3:c.392T>C	XP_011517179.1:p.Val131Ala
XM_011518878.3:c.392T>C	XP_011517180.1:p.Val131Ala
XM_011518879.3:c.392T>C	XP_011517181.1:p.Val131Ala
XM_017014931.1:c.282T>C	XP_016870420.1:p.Gly94=
XM_017014932.1:c.5T>C	XP_016870421.1:p.Val2Ala
XM_017014933.1:c.-163T>C	XP_016870422.1:n.-163T>C
XM_024447617.1:c.-263T>C	XP_024303385.1:n.-263T>C
XM_024447618.1:c.-263T>C	XP_024303386.1:n.-263T>C
NM_020822.3:c.257T>C MANE Select	NP_065873.2:p.Val86Ala
NM_001272003.2:c.113T>C	NP_001258932.1:p.Val38Ala