Canonical Allele Identifier: CA375501378

Gene: KCNT1

Linked Data

• gnomAD v4: 9-135765678-G-C
• MyVariant Identifiers: chr9:g.138657524G>C (hg19) ; chr9:g.135765678G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135765678G>C , CM000671.2:g.135765678G>C	GRCh38
NC_000009.11:g.138657524G>C , CM000671.1:g.138657524G>C	GRCh37
NC_000009.10:g.137797345G>C	NCBI36
NG_033070.1:g.68494G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000371757.7:c.1255G>C MANE Select	ENSP00000360822.2:p.Val419Leu
ENST00000674572.1:c.1096G>C	ENSP00000501742.1:p.Val366Leu
ENST00000675090.1:c.1003G>C	ENSP00000501833.1:p.Val335Leu
ENST00000675399.1:c.1003G>C	ENSP00000501932.1:p.Val335Leu
ENST00000676421.1:c.1012G>C	ENSP00000502322.1:p.Val338Leu
ENST00000263604.5:c.1156G>C	ENSP00000263604.4:p.Val386Leu
ENST00000371757.6:c.1255G>C	ENSP00000360822.2:p.Val419Leu
ENST00000460750.5:c.*865G>C	ENSP00000418777.1:n.*865G>C
ENST00000486577.6:c.1138G>C	ENSP00000417578.3:p.Val380Leu
ENST00000487664.5:c.1255G>C	ENSP00000417851.2:p.Val419Leu
ENST00000488444.6:c.1198G>C	ENSP00000419007.3:p.Val400Leu
ENST00000490355.6:c.1198G>C	ENSP00000418003.3:p.Val400Leu
ENST00000490363.3:n.1074G>C
ENST00000491806.6:c.1198G>C	ENSP00000419086.3:p.Val400Leu
ENST00000628528.2:c.1120G>C	ENSP00000486374.1:p.Val374Leu
ENST00000630792.2:c.1096G>C	ENSP00000486486.1:p.Val366Leu
ENST00000631073.2:c.1198G>C	ENSP00000486130.1:p.Val400Leu
NM_001272003.1:c.1120G>C	NP_001258932.1:p.Val374Leu
NM_020822.2:c.1255G>C	NP_065873.2:p.Val419Leu
XM_011518877.1:c.1390G>C	XP_011517179.1:p.Val464Leu
XM_011518878.1:c.1399G>C	XP_011517180.1:p.Val467Leu
XM_011518879.1:c.1390G>C	XP_011517181.1:p.Val464Leu
XM_011518880.1:c.1156G>C	XP_011517182.1:p.Val386Leu
XM_011518881.1:c.745G>C	XP_011517183.1:p.Val249Leu
XM_011518877.3:c.1390G>C	XP_011517179.1:p.Val464Leu
XM_011518878.3:c.1399G>C	XP_011517180.1:p.Val467Leu
XM_011518879.3:c.1390G>C	XP_011517181.1:p.Val464Leu
XM_011518881.3:c.745G>C	XP_011517183.1:p.Val249Leu
XM_017014931.1:c.1189G>C	XP_016870420.1:p.Val397Leu
XM_017014932.1:c.1012G>C	XP_016870421.1:p.Val338Leu
XM_017014933.1:c.745G>C	XP_016870422.1:p.Val249Leu
XM_024447617.1:c.745G>C	XP_024303385.1:p.Val249Leu
XM_024447618.1:c.745G>C	XP_024303386.1:p.Val249Leu
NM_020822.3:c.1255G>C MANE Select	NP_065873.2:p.Val419Leu
NM_001272003.2:c.1120G>C	NP_001258932.1:p.Val374Leu