Canonical Allele Identifier: CA375505885

Gene: KCNT1

Linked Data

• gnomAD v4: 9-135769973-A-G
• MyVariant Identifiers: chr9:g.138661819A>G (hg19) ; chr9:g.135769973A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135769973A>G , CM000671.2:g.135769973A>G	GRCh38
NC_000009.11:g.138661819A>G , CM000671.1:g.138661819A>G	GRCh37
NC_000009.10:g.137801640A>G	NCBI36
NG_033070.1:g.72789A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.1537A>G MANE Select	ENSP00000360822.2:p.Lys513Glu
ENST00000674572.1:c.1378A>G	ENSP00000501742.1:p.Lys460Glu
ENST00000675090.1:c.1285A>G	ENSP00000501833.1:p.Lys429Glu
ENST00000675399.1:c.1285A>G	ENSP00000501932.1:p.Lys429Glu
ENST00000676421.1:c.1294A>G	ENSP00000502322.1:p.Lys432Glu
ENST00000263604.5:c.1438A>G	ENSP00000263604.4:p.Lys480Glu
ENST00000371757.6:c.1537A>G	ENSP00000360822.2:p.Lys513Glu
ENST00000460750.5:c.*1147A>G	ENSP00000418777.1:n.*1147A>G
ENST00000486577.6:c.1420A>G	ENSP00000417578.3:p.Lys474Glu
ENST00000487664.5:c.1537A>G	ENSP00000417851.2:p.Lys513Glu
ENST00000488444.6:c.1480A>G	ENSP00000419007.3:p.Lys494Glu
ENST00000490355.6:c.1480A>G	ENSP00000418003.3:p.Lys494Glu
ENST00000490363.3:n.1356A>G
ENST00000491806.6:c.1480A>G	ENSP00000419086.3:p.Lys494Glu
ENST00000628528.2:c.1402A>G	ENSP00000486374.1:p.Lys468Glu
ENST00000630792.2:c.1378A>G	ENSP00000486486.1:p.Lys460Glu
ENST00000631073.2:c.1480A>G	ENSP00000486130.1:p.Lys494Glu
NM_001272003.1:c.1402A>G	NP_001258932.1:p.Lys468Glu
NM_020822.2:c.1537A>G	NP_065873.2:p.Lys513Glu
XM_011518877.1:c.1672A>G	XP_011517179.1:p.Lys558Glu
XM_011518878.1:c.1681A>G	XP_011517180.1:p.Lys561Glu
XM_011518879.1:c.1672A>G	XP_011517181.1:p.Lys558Glu
XM_011518880.1:c.1438A>G	XP_011517182.1:p.Lys480Glu
XM_011518881.1:c.1027A>G	XP_011517183.1:p.Lys343Glu
XM_011518877.3:c.1672A>G	XP_011517179.1:p.Lys558Glu
XM_011518878.3:c.1681A>G	XP_011517180.1:p.Lys561Glu
XM_011518879.3:c.1672A>G	XP_011517181.1:p.Lys558Glu
XM_011518881.3:c.1027A>G	XP_011517183.1:p.Lys343Glu
XM_017014931.1:c.1471A>G	XP_016870420.1:p.Lys491Glu
XM_017014932.1:c.1294A>G	XP_016870421.1:p.Lys432Glu
XM_017014933.1:c.1027A>G	XP_016870422.1:p.Lys343Glu
XM_024447617.1:c.1027A>G	XP_024303385.1:p.Lys343Glu
XM_024447618.1:c.1027A>G	XP_024303386.1:p.Lys343Glu
NM_020822.3:c.1537A>G MANE Select	NP_065873.2:p.Lys513Glu
NM_001272003.2:c.1402A>G	NP_001258932.1:p.Lys468Glu