Canonical Allele Identifier: CA5326961

Gene: KCNT1

Linked Data

• ClinVar Variation Id: 669096
• ClinVar RCV Id: RCV000828093 ; RCV001079047 ; RCV002399842 ; RCV002271057 ; RCV002271058
• dbSNP Id: rs371913299
• ExAC: 9:138661824 C / T
• gnomAD v2: 9-138661824-C-T
• gnomAD v3: 9-135769978-C-T
• gnomAD v4: 9-135769978-C-T
• MyVariant Identifiers: chr9:g.138661824C>T (hg19) ; chr9:g.135769978C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135769978C>T , CM000671.2:g.135769978C>T	GRCh38
NC_000009.11:g.138661824C>T , CM000671.1:g.138661824C>T	GRCh37
NC_000009.10:g.137801645C>T	NCBI36
NG_033070.1:g.72794C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.1542C>T MANE Select	ENSP00000360822.2:p.Tyr514=
ENST00000674572.1:c.1383C>T	ENSP00000501742.1:p.Tyr461=
ENST00000675090.1:c.1290C>T	ENSP00000501833.1:p.Tyr430=
ENST00000675399.1:c.1290C>T	ENSP00000501932.1:p.Tyr430=
ENST00000676421.1:c.1299C>T	ENSP00000502322.1:p.Tyr433=
ENST00000263604.5:c.1443C>T	ENSP00000263604.4:p.Tyr481=
ENST00000371757.6:c.1542C>T	ENSP00000360822.2:p.Tyr514=
ENST00000460750.5:c.*1152C>T	ENSP00000418777.1:n.*1152C>T
ENST00000486577.6:c.1425C>T	ENSP00000417578.3:p.Tyr475=
ENST00000487664.5:c.1542C>T	ENSP00000417851.2:p.Tyr514=
ENST00000488444.6:c.1485C>T	ENSP00000419007.3:p.Tyr495=
ENST00000490355.6:c.1485C>T	ENSP00000418003.3:p.Tyr495=
ENST00000490363.3:n.1361C>T
ENST00000491806.6:c.1485C>T	ENSP00000419086.3:p.Tyr495=
ENST00000628528.2:c.1407C>T	ENSP00000486374.1:p.Tyr469=
ENST00000630792.2:c.1383C>T	ENSP00000486486.1:p.Tyr461=
ENST00000631073.2:c.1485C>T	ENSP00000486130.1:p.Tyr495=
NM_001272003.1:c.1407C>T	NP_001258932.1:p.Tyr469=
NM_020822.2:c.1542C>T	NP_065873.2:p.Tyr514=
XM_011518877.1:c.1677C>T	XP_011517179.1:p.Tyr559=
XM_011518878.1:c.1686C>T	XP_011517180.1:p.Tyr562=
XM_011518879.1:c.1677C>T	XP_011517181.1:p.Tyr559=
XM_011518880.1:c.1443C>T	XP_011517182.1:p.Tyr481=
XM_011518881.1:c.1032C>T	XP_011517183.1:p.Tyr344=
XM_011518877.3:c.1677C>T	XP_011517179.1:p.Tyr559=
XM_011518878.3:c.1686C>T	XP_011517180.1:p.Tyr562=
XM_011518879.3:c.1677C>T	XP_011517181.1:p.Tyr559=
XM_011518881.3:c.1032C>T	XP_011517183.1:p.Tyr344=
XM_017014931.1:c.1476C>T	XP_016870420.1:p.Tyr492=
XM_017014932.1:c.1299C>T	XP_016870421.1:p.Tyr433=
XM_017014933.1:c.1032C>T	XP_016870422.1:p.Tyr344=
XM_024447617.1:c.1032C>T	XP_024303385.1:p.Tyr344=
XM_024447618.1:c.1032C>T	XP_024303386.1:p.Tyr344=
NM_020822.3:c.1542C>T MANE Select	NP_065873.2:p.Tyr514=
NM_001272003.2:c.1407C>T	NP_001258932.1:p.Tyr469=