Canonical Allele Identifier: CA375506460

Gene: KCNT1

Linked Data

• ClinVar Variation Id: 2006094
• ClinVar RCV Id: RCV002825706
• MyVariant Identifiers: chr9:g.138662208T>C (hg19) ; chr9:g.135770362T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135770362T>C , CM000671.2:g.135770362T>C	GRCh38
NC_000009.11:g.138662208T>C , CM000671.1:g.138662208T>C	GRCh37
NC_000009.10:g.137802029T>C	NCBI36
NG_033070.1:g.73178T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.1684T>C MANE Select	ENSP00000360822.2:p.Tyr562His
ENST00000674572.1:c.1525T>C	ENSP00000501742.1:p.Tyr509His
ENST00000675090.1:c.1432T>C	ENSP00000501833.1:p.Tyr478His
ENST00000675399.1:c.1432T>C	ENSP00000501932.1:p.Tyr478His
ENST00000676421.1:c.1441T>C	ENSP00000502322.1:p.Tyr481His
ENST00000263604.5:c.1585T>C	ENSP00000263604.4:p.Tyr529His
ENST00000371757.6:c.1684T>C	ENSP00000360822.2:p.Tyr562His
ENST00000460750.5:c.*1294T>C	ENSP00000418777.1:n.*1294T>C
ENST00000486577.6:c.1567T>C	ENSP00000417578.3:p.Tyr523His
ENST00000487664.5:c.1684T>C	ENSP00000417851.2:p.Tyr562His
ENST00000488444.6:c.1627T>C	ENSP00000419007.3:p.Tyr543His
ENST00000490355.6:c.1627T>C	ENSP00000418003.3:p.Tyr543His
ENST00000490363.3:n.1503T>C
ENST00000491806.6:c.1627T>C	ENSP00000419086.3:p.Tyr543His
ENST00000628528.2:c.1549T>C	ENSP00000486374.1:p.Tyr517His
ENST00000630792.2:c.1525T>C	ENSP00000486486.1:p.Tyr509His
ENST00000631073.2:c.1627T>C	ENSP00000486130.1:p.Tyr543His
NM_001272003.1:c.1549T>C	NP_001258932.1:p.Tyr517His
NM_020822.2:c.1684T>C	NP_065873.2:p.Tyr562His
XM_011518877.1:c.1819T>C	XP_011517179.1:p.Tyr607His
XM_011518878.1:c.1828T>C	XP_011517180.1:p.Tyr610His
XM_011518879.1:c.1819T>C	XP_011517181.1:p.Tyr607His
XM_011518880.1:c.1585T>C	XP_011517182.1:p.Tyr529His
XM_011518881.1:c.1174T>C	XP_011517183.1:p.Tyr392His
XM_011518877.3:c.1819T>C	XP_011517179.1:p.Tyr607His
XM_011518878.3:c.1828T>C	XP_011517180.1:p.Tyr610His
XM_011518879.3:c.1819T>C	XP_011517181.1:p.Tyr607His
XM_011518881.3:c.1174T>C	XP_011517183.1:p.Tyr392His
XM_017014931.1:c.1618T>C	XP_016870420.1:p.Tyr540His
XM_017014932.1:c.1441T>C	XP_016870421.1:p.Tyr481His
XM_017014933.1:c.1174T>C	XP_016870422.1:p.Tyr392His
XM_024447617.1:c.1174T>C	XP_024303385.1:p.Tyr392His
XM_024447618.1:c.1174T>C	XP_024303386.1:p.Tyr392His
NM_020822.3:c.1684T>C MANE Select	NP_065873.2:p.Tyr562His
NM_001272003.2:c.1549T>C	NP_001258932.1:p.Tyr517His