Canonical Allele Identifier: CA375506099

Gene: KCNT1

Linked Data

• MyVariant Identifiers: chr9:g.138662149G>C (hg19) ; chr9:g.135770303G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135770303G>C , CM000671.2:g.135770303G>C	GRCh38
NC_000009.11:g.138662149G>C , CM000671.1:g.138662149G>C	GRCh37
NC_000009.10:g.137801970G>C	NCBI36
NG_033070.1:g.73119G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.1625G>C MANE Select	ENSP00000360822.2:p.Gly542Ala
ENST00000674572.1:c.1466G>C	ENSP00000501742.1:p.Gly489Ala
ENST00000675090.1:c.1373G>C	ENSP00000501833.1:p.Gly458Ala
ENST00000675399.1:c.1373G>C	ENSP00000501932.1:p.Gly458Ala
ENST00000676421.1:c.1382G>C	ENSP00000502322.1:p.Gly461Ala
ENST00000263604.5:c.1526G>C	ENSP00000263604.4:p.Gly509Ala
ENST00000371757.6:c.1625G>C	ENSP00000360822.2:p.Gly542Ala
ENST00000460750.5:c.*1235G>C	ENSP00000418777.1:n.*1235G>C
ENST00000486577.6:c.1508G>C	ENSP00000417578.3:p.Gly503Ala
ENST00000487664.5:c.1625G>C	ENSP00000417851.2:p.Gly542Ala
ENST00000488444.6:c.1568G>C	ENSP00000419007.3:p.Gly523Ala
ENST00000490355.6:c.1568G>C	ENSP00000418003.3:p.Gly523Ala
ENST00000490363.3:n.1444G>C
ENST00000491806.6:c.1568G>C	ENSP00000419086.3:p.Gly523Ala
ENST00000628528.2:c.1490G>C	ENSP00000486374.1:p.Gly497Ala
ENST00000630792.2:c.1466G>C	ENSP00000486486.1:p.Gly489Ala
ENST00000631073.2:c.1568G>C	ENSP00000486130.1:p.Gly523Ala
NM_001272003.1:c.1490G>C	NP_001258932.1:p.Gly497Ala
NM_020822.2:c.1625G>C	NP_065873.2:p.Gly542Ala
XM_011518877.1:c.1760G>C	XP_011517179.1:p.Gly587Ala
XM_011518878.1:c.1769G>C	XP_011517180.1:p.Gly590Ala
XM_011518879.1:c.1760G>C	XP_011517181.1:p.Gly587Ala
XM_011518880.1:c.1526G>C	XP_011517182.1:p.Gly509Ala
XM_011518881.1:c.1115G>C	XP_011517183.1:p.Gly372Ala
XM_011518877.3:c.1760G>C	XP_011517179.1:p.Gly587Ala
XM_011518878.3:c.1769G>C	XP_011517180.1:p.Gly590Ala
XM_011518879.3:c.1760G>C	XP_011517181.1:p.Gly587Ala
XM_011518881.3:c.1115G>C	XP_011517183.1:p.Gly372Ala
XM_017014931.1:c.1559G>C	XP_016870420.1:p.Gly520Ala
XM_017014932.1:c.1382G>C	XP_016870421.1:p.Gly461Ala
XM_017014933.1:c.1115G>C	XP_016870422.1:p.Gly372Ala
XM_024447617.1:c.1115G>C	XP_024303385.1:p.Gly372Ala
XM_024447618.1:c.1115G>C	XP_024303386.1:p.Gly372Ala
NM_020822.3:c.1625G>C MANE Select	NP_065873.2:p.Gly542Ala
NM_001272003.2:c.1490G>C	NP_001258932.1:p.Gly497Ala