Canonical Allele Identifier: CA375494837

Gene: KCNT1

Linked Data

• MyVariant Identifiers: chr9:g.138642010A>C (hg19) ; chr9:g.135750164A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135750164A>C , CM000671.2:g.135750164A>C	GRCh38
NC_000009.11:g.138642010A>C , CM000671.1:g.138642010A>C	GRCh37
NC_000009.10:g.137781831A>C	NCBI36
NG_033070.1:g.52980A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000371757.7:c.321A>C MANE Select	ENSP00000360822.2:p.Lys107Asn
ENST00000637018.1:n.126A>C
ENST00000638123.1:n.56A>C
ENST00000674572.1:c.162A>C	ENSP00000501742.1:p.Lys54Asn
ENST00000675090.1:c.69A>C	ENSP00000501833.1:p.Lys23Asn
ENST00000675399.1:c.69A>C	ENSP00000501932.1:p.Lys23Asn
ENST00000676421.1:c.69A>C	ENSP00000502322.1:p.Lys23Asn
ENST00000263604.5:c.222A>C	ENSP00000263604.4:p.Lys74Asn
ENST00000371757.6:c.321A>C	ENSP00000360822.2:p.Lys107Asn
ENST00000460750.5:c.321A>C	ENSP00000418777.1:p.Lys107Asn
ENST00000473941.5:c.162A>C	ENSP00000420764.1:p.Lys54Asn
ENST00000486577.6:c.204A>C	ENSP00000417578.3:p.Lys68Asn
ENST00000487664.5:c.321A>C	ENSP00000417851.2:p.Lys107Asn
ENST00000488444.6:c.264A>C	ENSP00000419007.3:p.Lys88Asn
ENST00000490355.6:c.264A>C	ENSP00000418003.3:p.Lys88Asn
ENST00000491806.6:c.264A>C	ENSP00000419086.3:p.Lys88Asn
ENST00000628528.2:c.177A>C	ENSP00000486374.1:p.Lys59Asn
ENST00000630792.2:c.162A>C	ENSP00000486486.1:p.Lys54Asn
ENST00000631073.2:c.264A>C	ENSP00000486130.1:p.Lys88Asn
NM_001272003.1:c.177A>C	NP_001258932.1:p.Lys59Asn
NM_020822.2:c.321A>C	NP_065873.2:p.Lys107Asn
XM_011518877.1:c.456A>C	XP_011517179.1:p.Lys152Asn
XM_011518878.1:c.456A>C	XP_011517180.1:p.Lys152Asn
XM_011518879.1:c.456A>C	XP_011517181.1:p.Lys152Asn
XM_011518880.1:c.222A>C	XP_011517182.1:p.Lys74Asn
XM_011518877.3:c.456A>C	XP_011517179.1:p.Lys152Asn
XM_011518878.3:c.456A>C	XP_011517180.1:p.Lys152Asn
XM_011518879.3:c.456A>C	XP_011517181.1:p.Lys152Asn
XM_017014931.1:c.346A>C	XP_016870420.1:p.Lys116Gln
XM_017014932.1:c.69A>C	XP_016870421.1:p.Lys23Asn
XM_017014933.1:c.-99A>C	XP_016870422.1:n.-99A>C
XM_024447617.1:c.-199A>C	XP_024303385.1:n.-199A>C
XM_024447618.1:c.-199A>C	XP_024303386.1:n.-199A>C
NM_020822.3:c.321A>C MANE Select	NP_065873.2:p.Lys107Asn
NM_001272003.2:c.177A>C	NP_001258932.1:p.Lys59Asn