Canonical Allele Identifier: CA201465142

Gene: KCNT1

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135765089G>A , CM000671.2:g.135765089G>A	GRCh38
NC_000009.11:g.138656935G>A , CM000671.1:g.138656935G>A	GRCh37
NC_000009.10:g.137796756G>A	NCBI36
NG_033070.1:g.67905G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.1094G>A MANE Select	ENSP00000360822.2:p.Arg365His
ENST00000674572.1:c.935G>A	ENSP00000501742.1:p.Arg312His
ENST00000675090.1:c.842G>A	ENSP00000501833.1:p.Arg281His
ENST00000675399.1:c.842G>A	ENSP00000501932.1:p.Arg281His
ENST00000676421.1:c.851G>A	ENSP00000502322.1:p.Arg284His
ENST00000263604.5:c.995G>A	ENSP00000263604.4:p.Arg332His
ENST00000371757.6:c.1094G>A	ENSP00000360822.2:p.Arg365His
ENST00000460750.5:c.*704G>A	ENSP00000418777.1:n.*704G>A
ENST00000486577.6:c.977G>A	ENSP00000417578.3:p.Arg326His
ENST00000487664.5:c.1094G>A	ENSP00000417851.2:p.Arg365His
ENST00000488444.6:c.1037G>A	ENSP00000419007.3:p.Arg346His
ENST00000490355.6:c.1037G>A	ENSP00000418003.3:p.Arg346His
ENST00000490363.3:n.913G>A
ENST00000491806.6:c.1037G>A	ENSP00000419086.3:p.Arg346His
ENST00000628528.2:c.959G>A	ENSP00000486374.1:p.Arg320His
ENST00000630792.2:c.935G>A	ENSP00000486486.1:p.Arg312His
ENST00000631073.2:c.1037G>A	ENSP00000486130.1:p.Arg346His
NM_001272003.1:c.959G>A	NP_001258932.1:p.Arg320His
NM_020822.2:c.1094G>A	NP_065873.2:p.Arg365His
XM_011518877.1:c.1229G>A	XP_011517179.1:p.Arg410His
XM_011518878.1:c.1238G>A	XP_011517180.1:p.Arg413His
XM_011518879.1:c.1229G>A	XP_011517181.1:p.Arg410His
XM_011518880.1:c.995G>A	XP_011517182.1:p.Arg332His
XM_011518881.1:c.584G>A	XP_011517183.1:p.Arg195His
XM_011518877.3:c.1229G>A	XP_011517179.1:p.Arg410His
XM_011518878.3:c.1238G>A	XP_011517180.1:p.Arg413His
XM_011518879.3:c.1229G>A	XP_011517181.1:p.Arg410His
XM_011518881.3:c.584G>A	XP_011517183.1:p.Arg195His
XM_017014931.1:c.1028G>A	XP_016870420.1:p.Arg343His
XM_017014932.1:c.851G>A	XP_016870421.1:p.Arg284His
XM_017014933.1:c.584G>A	XP_016870422.1:p.Arg195His
XM_024447617.1:c.584G>A	XP_024303385.1:p.Arg195His
XM_024447618.1:c.584G>A	XP_024303386.1:p.Arg195His
NM_020822.3:c.1094G>A MANE Select	NP_065873.2:p.Arg365His
NM_001272003.2:c.959G>A	NP_001258932.1:p.Arg320His