Canonical Allele Identifier: CA467698811

Gene: KCNT1

Linked Data

• gnomAD v4: 9-135775391-C-G
• MyVariant Identifiers: chr9:g.138667237C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135775391C>G , CM000671.2:g.135775391C>G	GRCh38
NC_000009.11:g.138667237C>G , CM000671.1:g.138667237C>G	GRCh37
NC_000009.10:g.137807058C>G	NCBI36
NG_033070.1:g.78207C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.2325C>G MANE Select	ENSP00000360822.2:p.Pro775=
ENST00000674572.1:c.2166C>G	ENSP00000501742.1:p.Pro722=
ENST00000675090.1:c.2073C>G	ENSP00000501833.1:p.Pro691=
ENST00000675399.1:c.2073C>G	ENSP00000501932.1:p.Pro691=
ENST00000676421.1:c.2082C>G	ENSP00000502322.1:p.Pro694=
ENST00000263604.5:c.2226C>G	ENSP00000263604.4:p.Pro742=
ENST00000371757.6:c.2325C>G	ENSP00000360822.2:p.Pro775=
ENST00000460750.5:c.*1935C>G	ENSP00000418777.1:n.*1935C>G
ENST00000486577.6:c.2208C>G	ENSP00000417578.3:p.Pro736=
ENST00000487664.5:c.2325C>G	ENSP00000417851.2:p.Pro775=
ENST00000488444.6:c.2268C>G	ENSP00000419007.3:p.Pro756=
ENST00000490355.6:c.2262C>G	ENSP00000418003.3:p.Pro754=
ENST00000490363.3:n.2144C>G
ENST00000491806.6:c.2268C>G	ENSP00000419086.3:p.Pro756=
ENST00000628528.2:c.2190C>G	ENSP00000486374.1:p.Pro730=
ENST00000630792.2:c.2160C>G	ENSP00000486486.1:p.Pro720=
ENST00000631073.2:c.2268C>G	ENSP00000486130.1:p.Pro756=
ENST00000631193.1:c.174C>G	ENSP00000486830.1:p.Pro58=
NM_001272003.1:c.2190C>G	NP_001258932.1:p.Pro730=
NM_020822.2:c.2325C>G	NP_065873.2:p.Pro775=
XM_011518877.1:c.2460C>G	XP_011517179.1:p.Pro820=
XM_011518878.1:c.2469C>G	XP_011517180.1:p.Pro823=
XM_011518879.1:c.2460C>G	XP_011517181.1:p.Pro820=
XM_011518880.1:c.2226C>G	XP_011517182.1:p.Pro742=
XM_011518881.1:c.1815C>G	XP_011517183.1:p.Pro605=
XM_011518877.3:c.2460C>G	XP_011517179.1:p.Pro820=
XM_011518878.3:c.2469C>G	XP_011517180.1:p.Pro823=
XM_011518879.3:c.2460C>G	XP_011517181.1:p.Pro820=
XM_011518881.3:c.1815C>G	XP_011517183.1:p.Pro605=
XM_017014931.1:c.2259C>G	XP_016870420.1:p.Pro753=
XM_017014932.1:c.2082C>G	XP_016870421.1:p.Pro694=
XM_017014933.1:c.1815C>G	XP_016870422.1:p.Pro605=
XM_024447617.1:c.1815C>G	XP_024303385.1:p.Pro605=
XM_024447618.1:c.1815C>G	XP_024303386.1:p.Pro605=
NM_020822.3:c.2325C>G MANE Select	NP_065873.2:p.Pro775=
NM_001272003.2:c.2190C>G	NP_001258932.1:p.Pro730=