Canonical Allele Identifier: CA375499936

Gene: KCNT1

Linked Data

• MyVariant Identifiers: chr9:g.138656912G>C (hg19) ; chr9:g.135765066G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135765066G>C , CM000671.2:g.135765066G>C	GRCh38
NC_000009.11:g.138656912G>C , CM000671.1:g.138656912G>C	GRCh37
NC_000009.10:g.137796733G>C	NCBI36
NG_033070.1:g.67882G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000371757.7:c.1071G>C MANE Select	ENSP00000360822.2:p.Gln357His
ENST00000674572.1:c.912G>C	ENSP00000501742.1:p.Gln304His
ENST00000675090.1:c.819G>C	ENSP00000501833.1:p.Gln273His
ENST00000675399.1:c.819G>C	ENSP00000501932.1:p.Gln273His
ENST00000676421.1:c.828G>C	ENSP00000502322.1:p.Gln276His
ENST00000263604.5:c.972G>C	ENSP00000263604.4:p.Gln324His
ENST00000371757.6:c.1071G>C	ENSP00000360822.2:p.Gln357His
ENST00000460750.5:c.*681G>C	ENSP00000418777.1:n.*681G>C
ENST00000486577.6:c.954G>C	ENSP00000417578.3:p.Gln318His
ENST00000487664.5:c.1071G>C	ENSP00000417851.2:p.Gln357His
ENST00000488444.6:c.1014G>C	ENSP00000419007.3:p.Gln338His
ENST00000490355.6:c.1014G>C	ENSP00000418003.3:p.Gln338His
ENST00000490363.3:n.890G>C
ENST00000491806.6:c.1014G>C	ENSP00000419086.3:p.Gln338His
ENST00000628528.2:c.936G>C	ENSP00000486374.1:p.Gln312His
ENST00000630792.2:c.912G>C	ENSP00000486486.1:p.Gln304His
ENST00000631073.2:c.1014G>C	ENSP00000486130.1:p.Gln338His
NM_001272003.1:c.936G>C	NP_001258932.1:p.Gln312His
NM_020822.2:c.1071G>C	NP_065873.2:p.Gln357His
XM_011518877.1:c.1206G>C	XP_011517179.1:p.Gln402His
XM_011518878.1:c.1215G>C	XP_011517180.1:p.Gln405His
XM_011518879.1:c.1206G>C	XP_011517181.1:p.Gln402His
XM_011518880.1:c.972G>C	XP_011517182.1:p.Gln324His
XM_011518881.1:c.561G>C	XP_011517183.1:p.Gln187His
XM_011518877.3:c.1206G>C	XP_011517179.1:p.Gln402His
XM_011518878.3:c.1215G>C	XP_011517180.1:p.Gln405His
XM_011518879.3:c.1206G>C	XP_011517181.1:p.Gln402His
XM_011518881.3:c.561G>C	XP_011517183.1:p.Gln187His
XM_017014931.1:c.1005G>C	XP_016870420.1:p.Gln335His
XM_017014932.1:c.828G>C	XP_016870421.1:p.Gln276His
XM_017014933.1:c.561G>C	XP_016870422.1:p.Gln187His
XM_024447617.1:c.561G>C	XP_024303385.1:p.Gln187His
XM_024447618.1:c.561G>C	XP_024303386.1:p.Gln187His
NM_020822.3:c.1071G>C MANE Select	NP_065873.2:p.Gln357His
NM_001272003.2:c.936G>C	NP_001258932.1:p.Gln312His