Canonical Allele Identifier: CA375501065

Gene: KCNT1

Linked Data

• gnomAD v4: 9-135765634-T-C
• MyVariant Identifiers: chr9:g.138657480T>C (hg19) ; chr9:g.135765634T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135765634T>C , CM000671.2:g.135765634T>C	GRCh38
NC_000009.11:g.138657480T>C , CM000671.1:g.138657480T>C	GRCh37
NC_000009.10:g.137797301T>C	NCBI36
NG_033070.1:g.68450T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.1211T>C MANE Select	ENSP00000360822.2:p.Val404Ala
ENST00000674572.1:c.1052T>C	ENSP00000501742.1:p.Val351Ala
ENST00000675090.1:c.959T>C	ENSP00000501833.1:p.Val320Ala
ENST00000675399.1:c.959T>C	ENSP00000501932.1:p.Val320Ala
ENST00000676421.1:c.968T>C	ENSP00000502322.1:p.Val323Ala
ENST00000263604.5:c.1112T>C	ENSP00000263604.4:p.Val371Ala
ENST00000371757.6:c.1211T>C	ENSP00000360822.2:p.Val404Ala
ENST00000460750.5:c.*821T>C	ENSP00000418777.1:n.*821T>C
ENST00000486577.6:c.1094T>C	ENSP00000417578.3:p.Val365Ala
ENST00000487664.5:c.1211T>C	ENSP00000417851.2:p.Val404Ala
ENST00000488444.6:c.1154T>C	ENSP00000419007.3:p.Val385Ala
ENST00000490355.6:c.1154T>C	ENSP00000418003.3:p.Val385Ala
ENST00000490363.3:n.1030T>C
ENST00000491806.6:c.1154T>C	ENSP00000419086.3:p.Val385Ala
ENST00000628528.2:c.1076T>C	ENSP00000486374.1:p.Val359Ala
ENST00000630792.2:c.1052T>C	ENSP00000486486.1:p.Val351Ala
ENST00000631073.2:c.1154T>C	ENSP00000486130.1:p.Val385Ala
NM_001272003.1:c.1076T>C	NP_001258932.1:p.Val359Ala
NM_020822.2:c.1211T>C	NP_065873.2:p.Val404Ala
XM_011518877.1:c.1346T>C	XP_011517179.1:p.Val449Ala
XM_011518878.1:c.1355T>C	XP_011517180.1:p.Val452Ala
XM_011518879.1:c.1346T>C	XP_011517181.1:p.Val449Ala
XM_011518880.1:c.1112T>C	XP_011517182.1:p.Val371Ala
XM_011518881.1:c.701T>C	XP_011517183.1:p.Val234Ala
XM_011518877.3:c.1346T>C	XP_011517179.1:p.Val449Ala
XM_011518878.3:c.1355T>C	XP_011517180.1:p.Val452Ala
XM_011518879.3:c.1346T>C	XP_011517181.1:p.Val449Ala
XM_011518881.3:c.701T>C	XP_011517183.1:p.Val234Ala
XM_017014931.1:c.1145T>C	XP_016870420.1:p.Val382Ala
XM_017014932.1:c.968T>C	XP_016870421.1:p.Val323Ala
XM_017014933.1:c.701T>C	XP_016870422.1:p.Val234Ala
XM_024447617.1:c.701T>C	XP_024303385.1:p.Val234Ala
XM_024447618.1:c.701T>C	XP_024303386.1:p.Val234Ala
NM_020822.3:c.1211T>C MANE Select	NP_065873.2:p.Val404Ala
NM_001272003.2:c.1076T>C	NP_001258932.1:p.Val359Ala