Canonical Allele Identifier: CA375512436

Gene: KCNT1

Linked Data

• gnomAD v4: 9-135775389-C-A
• MyVariant Identifiers: chr9:g.138667235C>A (hg19) ; chr9:g.135775389C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135775389C>A , CM000671.2:g.135775389C>A	GRCh38
NC_000009.11:g.138667235C>A , CM000671.1:g.138667235C>A	GRCh37
NC_000009.10:g.137807056C>A	NCBI36
NG_033070.1:g.78205C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.2323C>A MANE Select	ENSP00000360822.2:p.Pro775Thr
ENST00000674572.1:c.2164C>A	ENSP00000501742.1:p.Pro722Thr
ENST00000675090.1:c.2071C>A	ENSP00000501833.1:p.Pro691Thr
ENST00000675399.1:c.2071C>A	ENSP00000501932.1:p.Pro691Thr
ENST00000676421.1:c.2080C>A	ENSP00000502322.1:p.Pro694Thr
ENST00000263604.5:c.2224C>A	ENSP00000263604.4:p.Pro742Thr
ENST00000371757.6:c.2323C>A	ENSP00000360822.2:p.Pro775Thr
ENST00000460750.5:c.*1933C>A	ENSP00000418777.1:n.*1933C>A
ENST00000486577.6:c.2206C>A	ENSP00000417578.3:p.Pro736Thr
ENST00000487664.5:c.2323C>A	ENSP00000417851.2:p.Pro775Thr
ENST00000488444.6:c.2266C>A	ENSP00000419007.3:p.Pro756Thr
ENST00000490355.6:c.2260C>A	ENSP00000418003.3:p.Pro754Thr
ENST00000490363.3:n.2142C>A
ENST00000491806.6:c.2266C>A	ENSP00000419086.3:p.Pro756Thr
ENST00000628528.2:c.2188C>A	ENSP00000486374.1:p.Pro730Thr
ENST00000630792.2:c.2158C>A	ENSP00000486486.1:p.Pro720Thr
ENST00000631073.2:c.2266C>A	ENSP00000486130.1:p.Pro756Thr
ENST00000631193.1:c.172C>A	ENSP00000486830.1:p.Pro58Thr
NM_001272003.1:c.2188C>A	NP_001258932.1:p.Pro730Thr
NM_020822.2:c.2323C>A	NP_065873.2:p.Pro775Thr
XM_011518877.1:c.2458C>A	XP_011517179.1:p.Pro820Thr
XM_011518878.1:c.2467C>A	XP_011517180.1:p.Pro823Thr
XM_011518879.1:c.2458C>A	XP_011517181.1:p.Pro820Thr
XM_011518880.1:c.2224C>A	XP_011517182.1:p.Pro742Thr
XM_011518881.1:c.1813C>A	XP_011517183.1:p.Pro605Thr
XM_011518877.3:c.2458C>A	XP_011517179.1:p.Pro820Thr
XM_011518878.3:c.2467C>A	XP_011517180.1:p.Pro823Thr
XM_011518879.3:c.2458C>A	XP_011517181.1:p.Pro820Thr
XM_011518881.3:c.1813C>A	XP_011517183.1:p.Pro605Thr
XM_017014931.1:c.2257C>A	XP_016870420.1:p.Pro753Thr
XM_017014932.1:c.2080C>A	XP_016870421.1:p.Pro694Thr
XM_017014933.1:c.1813C>A	XP_016870422.1:p.Pro605Thr
XM_024447617.1:c.1813C>A	XP_024303385.1:p.Pro605Thr
XM_024447618.1:c.1813C>A	XP_024303386.1:p.Pro605Thr
NM_020822.3:c.2323C>A MANE Select	NP_065873.2:p.Pro775Thr
NM_001272003.2:c.2188C>A	NP_001258932.1:p.Pro730Thr