Canonical Allele Identifier: CA375500087

Gene: KCNT1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135765102G>C , CM000671.2:g.135765102G>C	GRCh38
NC_000009.11:g.138656948G>C , CM000671.1:g.138656948G>C	GRCh37
NC_000009.10:g.137796769G>C	NCBI36
NG_033070.1:g.67918G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.1107G>C MANE Select	ENSP00000360822.2:p.Gln369His
ENST00000674572.1:c.948G>C	ENSP00000501742.1:p.Gln316His
ENST00000675090.1:c.855G>C	ENSP00000501833.1:p.Gln285His
ENST00000675399.1:c.855G>C	ENSP00000501932.1:p.Gln285His
ENST00000676421.1:c.864G>C	ENSP00000502322.1:p.Gln288His
ENST00000263604.5:c.1008G>C	ENSP00000263604.4:p.Gln336His
ENST00000371757.6:c.1107G>C	ENSP00000360822.2:p.Gln369His
ENST00000460750.5:c.*717G>C	ENSP00000418777.1:n.*717G>C
ENST00000486577.6:c.990G>C	ENSP00000417578.3:p.Gln330His
ENST00000487664.5:c.1107G>C	ENSP00000417851.2:p.Gln369His
ENST00000488444.6:c.1050G>C	ENSP00000419007.3:p.Gln350His
ENST00000490355.6:c.1050G>C	ENSP00000418003.3:p.Gln350His
ENST00000490363.3:n.926G>C
ENST00000491806.6:c.1050G>C	ENSP00000419086.3:p.Gln350His
ENST00000628528.2:c.972G>C	ENSP00000486374.1:p.Gln324His
ENST00000630792.2:c.948G>C	ENSP00000486486.1:p.Gln316His
ENST00000631073.2:c.1050G>C	ENSP00000486130.1:p.Gln350His
NM_001272003.1:c.972G>C	NP_001258932.1:p.Gln324His
NM_020822.2:c.1107G>C	NP_065873.2:p.Gln369His
XM_011518877.1:c.1242G>C	XP_011517179.1:p.Gln414His
XM_011518878.1:c.1251G>C	XP_011517180.1:p.Gln417His
XM_011518879.1:c.1242G>C	XP_011517181.1:p.Gln414His
XM_011518880.1:c.1008G>C	XP_011517182.1:p.Gln336His
XM_011518881.1:c.597G>C	XP_011517183.1:p.Gln199His
XM_011518877.3:c.1242G>C	XP_011517179.1:p.Gln414His
XM_011518878.3:c.1251G>C	XP_011517180.1:p.Gln417His
XM_011518879.3:c.1242G>C	XP_011517181.1:p.Gln414His
XM_011518881.3:c.597G>C	XP_011517183.1:p.Gln199His
XM_017014931.1:c.1041G>C	XP_016870420.1:p.Gln347His
XM_017014932.1:c.864G>C	XP_016870421.1:p.Gln288His
XM_017014933.1:c.597G>C	XP_016870422.1:p.Gln199His
XM_024447617.1:c.597G>C	XP_024303385.1:p.Gln199His
XM_024447618.1:c.597G>C	XP_024303386.1:p.Gln199His
NM_020822.3:c.1107G>C MANE Select	NP_065873.2:p.Gln369His
NM_001272003.2:c.972G>C	NP_001258932.1:p.Gln324His