Canonical Allele Identifier: CA375500018

Gene: KCNT1

Linked Data

• MyVariant Identifiers: chr9:g.138656932G>A (hg19) ; chr9:g.135765086G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135765086G>A , CM000671.2:g.135765086G>A	GRCh38
NC_000009.11:g.138656932G>A , CM000671.1:g.138656932G>A	GRCh37
NC_000009.10:g.137796753G>A	NCBI36
NG_033070.1:g.67902G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.1091G>A MANE Select	ENSP00000360822.2:p.Ser364Asn
ENST00000674572.1:c.932G>A	ENSP00000501742.1:p.Ser311Asn
ENST00000675090.1:c.839G>A	ENSP00000501833.1:p.Ser280Asn
ENST00000675399.1:c.839G>A	ENSP00000501932.1:p.Ser280Asn
ENST00000676421.1:c.848G>A	ENSP00000502322.1:p.Ser283Asn
ENST00000263604.5:c.992G>A	ENSP00000263604.4:p.Ser331Asn
ENST00000371757.6:c.1091G>A	ENSP00000360822.2:p.Ser364Asn
ENST00000460750.5:c.*701G>A	ENSP00000418777.1:n.*701G>A
ENST00000486577.6:c.974G>A	ENSP00000417578.3:p.Ser325Asn
ENST00000487664.5:c.1091G>A	ENSP00000417851.2:p.Ser364Asn
ENST00000488444.6:c.1034G>A	ENSP00000419007.3:p.Ser345Asn
ENST00000490355.6:c.1034G>A	ENSP00000418003.3:p.Ser345Asn
ENST00000490363.3:n.910G>A
ENST00000491806.6:c.1034G>A	ENSP00000419086.3:p.Ser345Asn
ENST00000628528.2:c.956G>A	ENSP00000486374.1:p.Ser319Asn
ENST00000630792.2:c.932G>A	ENSP00000486486.1:p.Ser311Asn
ENST00000631073.2:c.1034G>A	ENSP00000486130.1:p.Ser345Asn
NM_001272003.1:c.956G>A	NP_001258932.1:p.Ser319Asn
NM_020822.2:c.1091G>A	NP_065873.2:p.Ser364Asn
XM_011518877.1:c.1226G>A	XP_011517179.1:p.Ser409Asn
XM_011518878.1:c.1235G>A	XP_011517180.1:p.Ser412Asn
XM_011518879.1:c.1226G>A	XP_011517181.1:p.Ser409Asn
XM_011518880.1:c.992G>A	XP_011517182.1:p.Ser331Asn
XM_011518881.1:c.581G>A	XP_011517183.1:p.Ser194Asn
XM_011518877.3:c.1226G>A	XP_011517179.1:p.Ser409Asn
XM_011518878.3:c.1235G>A	XP_011517180.1:p.Ser412Asn
XM_011518879.3:c.1226G>A	XP_011517181.1:p.Ser409Asn
XM_011518881.3:c.581G>A	XP_011517183.1:p.Ser194Asn
XM_017014931.1:c.1025G>A	XP_016870420.1:p.Ser342Asn
XM_017014932.1:c.848G>A	XP_016870421.1:p.Ser283Asn
XM_017014933.1:c.581G>A	XP_016870422.1:p.Ser194Asn
XM_024447617.1:c.581G>A	XP_024303385.1:p.Ser194Asn
XM_024447618.1:c.581G>A	XP_024303386.1:p.Ser194Asn
NM_020822.3:c.1091G>A MANE Select	NP_065873.2:p.Ser364Asn
NM_001272003.2:c.956G>A	NP_001258932.1:p.Ser319Asn