Canonical Allele Identifier: CA375494702

Gene: KCNT1

Linked Data

• MyVariant Identifiers: chr9:g.138641952T>C (hg19) ; chr9:g.135750106T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135750106T>C , CM000671.2:g.135750106T>C	GRCh38
NC_000009.11:g.138641952T>C , CM000671.1:g.138641952T>C	GRCh37
NC_000009.10:g.137781773T>C	NCBI36
NG_033070.1:g.52922T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.263T>C MANE Select	ENSP00000360822.2:p.Val88Ala
ENST00000637018.1:n.68T>C
ENST00000674572.1:c.104T>C	ENSP00000501742.1:p.Val35Ala
ENST00000675090.1:c.11T>C	ENSP00000501833.1:p.Val4Ala
ENST00000675399.1:c.11T>C	ENSP00000501932.1:p.Val4Ala
ENST00000676421.1:c.11T>C	ENSP00000502322.1:p.Val4Ala
ENST00000263604.5:c.164T>C	ENSP00000263604.4:p.Val55Ala
ENST00000371757.6:c.263T>C	ENSP00000360822.2:p.Val88Ala
ENST00000460750.5:c.263T>C	ENSP00000418777.1:p.Val88Ala
ENST00000473941.5:c.104T>C	ENSP00000420764.1:p.Val35Ala
ENST00000486577.6:c.146T>C	ENSP00000417578.3:p.Val49Ala
ENST00000487664.5:c.263T>C	ENSP00000417851.2:p.Val88Ala
ENST00000488444.6:c.206T>C	ENSP00000419007.3:p.Val69Ala
ENST00000490355.6:c.206T>C	ENSP00000418003.3:p.Val69Ala
ENST00000491806.6:c.206T>C	ENSP00000419086.3:p.Val69Ala
ENST00000628528.2:c.119T>C	ENSP00000486374.1:p.Val40Ala
ENST00000630792.2:c.104T>C	ENSP00000486486.1:p.Val35Ala
ENST00000631073.2:c.206T>C	ENSP00000486130.1:p.Val69Ala
NM_001272003.1:c.119T>C	NP_001258932.1:p.Val40Ala
NM_020822.2:c.263T>C	NP_065873.2:p.Val88Ala
XM_011518877.1:c.398T>C	XP_011517179.1:p.Val133Ala
XM_011518878.1:c.398T>C	XP_011517180.1:p.Val133Ala
XM_011518879.1:c.398T>C	XP_011517181.1:p.Val133Ala
XM_011518880.1:c.164T>C	XP_011517182.1:p.Val55Ala
XM_011518877.3:c.398T>C	XP_011517179.1:p.Val133Ala
XM_011518878.3:c.398T>C	XP_011517180.1:p.Val133Ala
XM_011518879.3:c.398T>C	XP_011517181.1:p.Val133Ala
XM_017014931.1:c.288T>C	XP_016870420.1:p.Gly96=
XM_017014932.1:c.11T>C	XP_016870421.1:p.Val4Ala
XM_017014933.1:c.-157T>C	XP_016870422.1:n.-157T>C
XM_024447617.1:c.-257T>C	XP_024303385.1:n.-257T>C
XM_024447618.1:c.-257T>C	XP_024303386.1:n.-257T>C
NM_020822.3:c.263T>C MANE Select	NP_065873.2:p.Val88Ala
NM_001272003.2:c.119T>C	NP_001258932.1:p.Val40Ala