Canonical Allele Identifier: CA375501020

Gene: KCNT1

Linked Data

• MyVariant Identifiers: chr9:g.138657476T>C (hg19) ; chr9:g.135765630T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135765630T>C , CM000671.2:g.135765630T>C	GRCh38
NC_000009.11:g.138657476T>C , CM000671.1:g.138657476T>C	GRCh37
NC_000009.10:g.137797297T>C	NCBI36
NG_033070.1:g.68446T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.1207T>C MANE Select	ENSP00000360822.2:p.Tyr403His
ENST00000674572.1:c.1048T>C	ENSP00000501742.1:p.Tyr350His
ENST00000675090.1:c.955T>C	ENSP00000501833.1:p.Tyr319His
ENST00000675399.1:c.955T>C	ENSP00000501932.1:p.Tyr319His
ENST00000676421.1:c.964T>C	ENSP00000502322.1:p.Tyr322His
ENST00000263604.5:c.1108T>C	ENSP00000263604.4:p.Tyr370His
ENST00000371757.6:c.1207T>C	ENSP00000360822.2:p.Tyr403His
ENST00000460750.5:c.*817T>C	ENSP00000418777.1:n.*817T>C
ENST00000486577.6:c.1090T>C	ENSP00000417578.3:p.Tyr364His
ENST00000487664.5:c.1207T>C	ENSP00000417851.2:p.Tyr403His
ENST00000488444.6:c.1150T>C	ENSP00000419007.3:p.Tyr384His
ENST00000490355.6:c.1150T>C	ENSP00000418003.3:p.Tyr384His
ENST00000490363.3:n.1026T>C
ENST00000491806.6:c.1150T>C	ENSP00000419086.3:p.Tyr384His
ENST00000628528.2:c.1072T>C	ENSP00000486374.1:p.Tyr358His
ENST00000630792.2:c.1048T>C	ENSP00000486486.1:p.Tyr350His
ENST00000631073.2:c.1150T>C	ENSP00000486130.1:p.Tyr384His
NM_001272003.1:c.1072T>C	NP_001258932.1:p.Tyr358His
NM_020822.2:c.1207T>C	NP_065873.2:p.Tyr403His
XM_011518877.1:c.1342T>C	XP_011517179.1:p.Tyr448His
XM_011518878.1:c.1351T>C	XP_011517180.1:p.Tyr451His
XM_011518879.1:c.1342T>C	XP_011517181.1:p.Tyr448His
XM_011518880.1:c.1108T>C	XP_011517182.1:p.Tyr370His
XM_011518881.1:c.697T>C	XP_011517183.1:p.Tyr233His
XM_011518877.3:c.1342T>C	XP_011517179.1:p.Tyr448His
XM_011518878.3:c.1351T>C	XP_011517180.1:p.Tyr451His
XM_011518879.3:c.1342T>C	XP_011517181.1:p.Tyr448His
XM_011518881.3:c.697T>C	XP_011517183.1:p.Tyr233His
XM_017014931.1:c.1141T>C	XP_016870420.1:p.Tyr381His
XM_017014932.1:c.964T>C	XP_016870421.1:p.Tyr322His
XM_017014933.1:c.697T>C	XP_016870422.1:p.Tyr233His
XM_024447617.1:c.697T>C	XP_024303385.1:p.Tyr233His
XM_024447618.1:c.697T>C	XP_024303386.1:p.Tyr233His
NM_020822.3:c.1207T>C MANE Select	NP_065873.2:p.Tyr403His
NM_001272003.2:c.1072T>C	NP_001258932.1:p.Tyr358His