Canonical Allele Identifier: CA375506008

Gene: KCNT1

Linked Data

• gnomAD v4: 9-135770031-T-C
• MyVariant Identifiers: chr9:g.138661877T>C (hg19) ; chr9:g.135770031T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135770031T>C , CM000671.2:g.135770031T>C	GRCh38
NC_000009.11:g.138661877T>C , CM000671.1:g.138661877T>C	GRCh37
NC_000009.10:g.137801698T>C	NCBI36
NG_033070.1:g.72847T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.1595T>C MANE Select	ENSP00000360822.2:p.Leu532Pro
ENST00000674572.1:c.1436T>C	ENSP00000501742.1:p.Leu479Pro
ENST00000675090.1:c.1343T>C	ENSP00000501833.1:p.Leu448Pro
ENST00000675399.1:c.1343T>C	ENSP00000501932.1:p.Leu448Pro
ENST00000676421.1:c.1352T>C	ENSP00000502322.1:p.Leu451Pro
ENST00000263604.5:c.1496T>C	ENSP00000263604.4:p.Leu499Pro
ENST00000371757.6:c.1595T>C	ENSP00000360822.2:p.Leu532Pro
ENST00000460750.5:c.*1205T>C	ENSP00000418777.1:n.*1205T>C
ENST00000486577.6:c.1478T>C	ENSP00000417578.3:p.Leu493Pro
ENST00000487664.5:c.1595T>C	ENSP00000417851.2:p.Leu532Pro
ENST00000488444.6:c.1538T>C	ENSP00000419007.3:p.Leu513Pro
ENST00000490355.6:c.1538T>C	ENSP00000418003.3:p.Leu513Pro
ENST00000490363.3:n.1414T>C
ENST00000491806.6:c.1538T>C	ENSP00000419086.3:p.Leu513Pro
ENST00000628528.2:c.1460T>C	ENSP00000486374.1:p.Leu487Pro
ENST00000630792.2:c.1436T>C	ENSP00000486486.1:p.Leu479Pro
ENST00000631073.2:c.1538T>C	ENSP00000486130.1:p.Leu513Pro
NM_001272003.1:c.1460T>C	NP_001258932.1:p.Leu487Pro
NM_020822.2:c.1595T>C	NP_065873.2:p.Leu532Pro
XM_011518877.1:c.1730T>C	XP_011517179.1:p.Leu577Pro
XM_011518878.1:c.1739T>C	XP_011517180.1:p.Leu580Pro
XM_011518879.1:c.1730T>C	XP_011517181.1:p.Leu577Pro
XM_011518880.1:c.1496T>C	XP_011517182.1:p.Leu499Pro
XM_011518881.1:c.1085T>C	XP_011517183.1:p.Leu362Pro
XM_011518877.3:c.1730T>C	XP_011517179.1:p.Leu577Pro
XM_011518878.3:c.1739T>C	XP_011517180.1:p.Leu580Pro
XM_011518879.3:c.1730T>C	XP_011517181.1:p.Leu577Pro
XM_011518881.3:c.1085T>C	XP_011517183.1:p.Leu362Pro
XM_017014931.1:c.1529T>C	XP_016870420.1:p.Leu510Pro
XM_017014932.1:c.1352T>C	XP_016870421.1:p.Leu451Pro
XM_017014933.1:c.1085T>C	XP_016870422.1:p.Leu362Pro
XM_024447617.1:c.1085T>C	XP_024303385.1:p.Leu362Pro
XM_024447618.1:c.1085T>C	XP_024303386.1:p.Leu362Pro
NM_020822.3:c.1595T>C MANE Select	NP_065873.2:p.Leu532Pro
NM_001272003.2:c.1460T>C	NP_001258932.1:p.Leu487Pro