Canonical Allele Identifier: CA375494831

Gene: KCNT1

Linked Data

• COSMIC: COSM6473015 ; COSM6473016
• MyVariant Identifiers: chr9:g.138642008A>C (hg19) ; chr9:g.135750162A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135750162A>C , CM000671.2:g.135750162A>C	GRCh38
NC_000009.11:g.138642008A>C , CM000671.1:g.138642008A>C	GRCh37
NC_000009.10:g.137781829A>C	NCBI36
NG_033070.1:g.52978A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.319A>C MANE Select	ENSP00000360822.2:p.Lys107Gln
ENST00000637018.1:n.124A>C
ENST00000638123.1:n.54A>C
ENST00000674572.1:c.160A>C	ENSP00000501742.1:p.Lys54Gln
ENST00000675090.1:c.67A>C	ENSP00000501833.1:p.Lys23Gln
ENST00000675399.1:c.67A>C	ENSP00000501932.1:p.Lys23Gln
ENST00000676421.1:c.67A>C	ENSP00000502322.1:p.Lys23Gln
ENST00000263604.5:c.220A>C	ENSP00000263604.4:p.Lys74Gln
ENST00000371757.6:c.319A>C	ENSP00000360822.2:p.Lys107Gln
ENST00000460750.5:c.319A>C	ENSP00000418777.1:p.Lys107Gln
ENST00000473941.5:c.160A>C	ENSP00000420764.1:p.Lys54Gln
ENST00000486577.6:c.202A>C	ENSP00000417578.3:p.Lys68Gln
ENST00000487664.5:c.319A>C	ENSP00000417851.2:p.Lys107Gln
ENST00000488444.6:c.262A>C	ENSP00000419007.3:p.Lys88Gln
ENST00000490355.6:c.262A>C	ENSP00000418003.3:p.Lys88Gln
ENST00000491806.6:c.262A>C	ENSP00000419086.3:p.Lys88Gln
ENST00000628528.2:c.175A>C	ENSP00000486374.1:p.Lys59Gln
ENST00000630792.2:c.160A>C	ENSP00000486486.1:p.Lys54Gln
ENST00000631073.2:c.262A>C	ENSP00000486130.1:p.Lys88Gln
NM_001272003.1:c.175A>C	NP_001258932.1:p.Lys59Gln
NM_020822.2:c.319A>C	NP_065873.2:p.Lys107Gln
XM_011518877.1:c.454A>C	XP_011517179.1:p.Lys152Gln
XM_011518878.1:c.454A>C	XP_011517180.1:p.Lys152Gln
XM_011518879.1:c.454A>C	XP_011517181.1:p.Lys152Gln
XM_011518880.1:c.220A>C	XP_011517182.1:p.Lys74Gln
XM_011518877.3:c.454A>C	XP_011517179.1:p.Lys152Gln
XM_011518878.3:c.454A>C	XP_011517180.1:p.Lys152Gln
XM_011518879.3:c.454A>C	XP_011517181.1:p.Lys152Gln
XM_017014931.1:c.344A>C	XP_016870420.1:p.Gln115Pro
XM_017014932.1:c.67A>C	XP_016870421.1:p.Lys23Gln
XM_017014933.1:c.-101A>C	XP_016870422.1:n.-101A>C
XM_024447617.1:c.-201A>C	XP_024303385.1:n.-201A>C
XM_024447618.1:c.-201A>C	XP_024303386.1:n.-201A>C
NM_020822.3:c.319A>C MANE Select	NP_065873.2:p.Lys107Gln
NM_001272003.2:c.175A>C	NP_001258932.1:p.Lys59Gln