Canonical Allele Identifier: CA5326846

Gene: KCNT1

Linked Data

• ClinVar Variation Id: 1423830
• ClinVar RCV Id: RCV001954907
• dbSNP Id: rs763557773
• ExAC: 9:138657597 T / C
• gnomAD v2: 9-138657597-T-C
• gnomAD v4: 9-135765751-T-C
• MyVariant Identifiers: chr9:g.138657597T>C (hg19) ; chr9:g.135765751T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135765751T>C , CM000671.2:g.135765751T>C	GRCh38
NC_000009.11:g.138657597T>C , CM000671.1:g.138657597T>C	GRCh37
NC_000009.10:g.137797418T>C	NCBI36
NG_033070.1:g.68567T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.1328T>C MANE Select	ENSP00000360822.2:p.Met443Thr
ENST00000636003.1:c.18T>C
ENST00000636995.1:n.55T>C
ENST00000637798.1:n.67T>C
ENST00000674572.1:c.1169T>C	ENSP00000501742.1:p.Met390Thr
ENST00000675090.1:c.1076T>C	ENSP00000501833.1:p.Met359Thr
ENST00000675399.1:c.1076T>C	ENSP00000501932.1:p.Met359Thr
ENST00000676421.1:c.1085T>C	ENSP00000502322.1:p.Met362Thr
ENST00000263604.5:c.1229T>C	ENSP00000263604.4:p.Met410Thr
ENST00000371757.6:c.1328T>C	ENSP00000360822.2:p.Met443Thr
ENST00000460750.5:c.*938T>C	ENSP00000418777.1:n.*938T>C
ENST00000486577.6:c.1211T>C	ENSP00000417578.3:p.Met404Thr
ENST00000487664.5:c.1328T>C	ENSP00000417851.2:p.Met443Thr
ENST00000488444.6:c.1271T>C	ENSP00000419007.3:p.Met424Thr
ENST00000490355.6:c.1271T>C	ENSP00000418003.3:p.Met424Thr
ENST00000490363.3:n.1147T>C
ENST00000491806.6:c.1271T>C	ENSP00000419086.3:p.Met424Thr
ENST00000628528.2:c.1193T>C	ENSP00000486374.1:p.Met398Thr
ENST00000630792.2:c.1169T>C	ENSP00000486486.1:p.Met390Thr
ENST00000631073.2:c.1271T>C	ENSP00000486130.1:p.Met424Thr
NM_001272003.1:c.1193T>C	NP_001258932.1:p.Met398Thr
NM_020822.2:c.1328T>C	NP_065873.2:p.Met443Thr
XM_011518877.1:c.1463T>C	XP_011517179.1:p.Met488Thr
XM_011518878.1:c.1472T>C	XP_011517180.1:p.Met491Thr
XM_011518879.1:c.1463T>C	XP_011517181.1:p.Met488Thr
XM_011518880.1:c.1229T>C	XP_011517182.1:p.Met410Thr
XM_011518881.1:c.818T>C	XP_011517183.1:p.Met273Thr
XM_011518877.3:c.1463T>C	XP_011517179.1:p.Met488Thr
XM_011518878.3:c.1472T>C	XP_011517180.1:p.Met491Thr
XM_011518879.3:c.1463T>C	XP_011517181.1:p.Met488Thr
XM_011518881.3:c.818T>C	XP_011517183.1:p.Met273Thr
XM_017014931.1:c.1262T>C	XP_016870420.1:p.Met421Thr
XM_017014932.1:c.1085T>C	XP_016870421.1:p.Met362Thr
XM_017014933.1:c.818T>C	XP_016870422.1:p.Met273Thr
XM_024447617.1:c.818T>C	XP_024303385.1:p.Met273Thr
XM_024447618.1:c.818T>C	XP_024303386.1:p.Met273Thr
NM_020822.3:c.1328T>C MANE Select	NP_065873.2:p.Met443Thr
NM_001272003.2:c.1193T>C	NP_001258932.1:p.Met398Thr