Canonical Allele Identifier: CA375512180

Gene: KCNT1

Linked Data

• MyVariant Identifiers: chr9:g.138667179A>C (hg19) ; chr9:g.135775333A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135775333A>C , CM000671.2:g.135775333A>C	GRCh38
NC_000009.11:g.138667179A>C , CM000671.1:g.138667179A>C	GRCh37
NC_000009.10:g.137807000A>C	NCBI36
NG_033070.1:g.78149A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.2267A>C MANE Select	ENSP00000360822.2:p.Asn756Thr
ENST00000674572.1:c.2108A>C	ENSP00000501742.1:p.Asn703Thr
ENST00000675090.1:c.2015A>C	ENSP00000501833.1:p.Asn672Thr
ENST00000675399.1:c.2015A>C	ENSP00000501932.1:p.Asn672Thr
ENST00000676421.1:c.2024A>C	ENSP00000502322.1:p.Asn675Thr
ENST00000263604.5:c.2168A>C	ENSP00000263604.4:p.Asn723Thr
ENST00000371757.6:c.2267A>C	ENSP00000360822.2:p.Asn756Thr
ENST00000460750.5:c.*1877A>C	ENSP00000418777.1:n.*1877A>C
ENST00000486577.6:c.2150A>C	ENSP00000417578.3:p.Asn717Thr
ENST00000487664.5:c.2267A>C	ENSP00000417851.2:p.Asn756Thr
ENST00000488444.6:c.2210A>C	ENSP00000419007.3:p.Asn737Thr
ENST00000490355.6:c.2204A>C	ENSP00000418003.3:p.Asn735Thr
ENST00000490363.3:n.2086A>C
ENST00000491806.6:c.2210A>C	ENSP00000419086.3:p.Asn737Thr
ENST00000628528.2:c.2132A>C	ENSP00000486374.1:p.Asn711Thr
ENST00000630792.2:c.2102A>C	ENSP00000486486.1:p.Asn701Thr
ENST00000631073.2:c.2210A>C	ENSP00000486130.1:p.Asn737Thr
ENST00000631193.1:c.116A>C	ENSP00000486830.1:p.Asn39Thr
NM_001272003.1:c.2132A>C	NP_001258932.1:p.Asn711Thr
NM_020822.2:c.2267A>C	NP_065873.2:p.Asn756Thr
XM_011518877.1:c.2402A>C	XP_011517179.1:p.Asn801Thr
XM_011518878.1:c.2411A>C	XP_011517180.1:p.Asn804Thr
XM_011518879.1:c.2402A>C	XP_011517181.1:p.Asn801Thr
XM_011518880.1:c.2168A>C	XP_011517182.1:p.Asn723Thr
XM_011518881.1:c.1757A>C	XP_011517183.1:p.Asn586Thr
XM_011518877.3:c.2402A>C	XP_011517179.1:p.Asn801Thr
XM_011518878.3:c.2411A>C	XP_011517180.1:p.Asn804Thr
XM_011518879.3:c.2402A>C	XP_011517181.1:p.Asn801Thr
XM_011518881.3:c.1757A>C	XP_011517183.1:p.Asn586Thr
XM_017014931.1:c.2201A>C	XP_016870420.1:p.Asn734Thr
XM_017014932.1:c.2024A>C	XP_016870421.1:p.Asn675Thr
XM_017014933.1:c.1757A>C	XP_016870422.1:p.Asn586Thr
XM_024447617.1:c.1757A>C	XP_024303385.1:p.Asn586Thr
XM_024447618.1:c.1757A>C	XP_024303386.1:p.Asn586Thr
NM_020822.3:c.2267A>C MANE Select	NP_065873.2:p.Asn756Thr
NM_001272003.2:c.2132A>C	NP_001258932.1:p.Asn711Thr