Canonical Allele Identifier: CA375512253

Gene: KCNT1

Linked Data

• MyVariant Identifiers: chr9:g.138667202C>A (hg19) ; chr9:g.135775356C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135775356C>A , CM000671.2:g.135775356C>A	GRCh38
NC_000009.11:g.138667202C>A , CM000671.1:g.138667202C>A	GRCh37
NC_000009.10:g.137807023C>A	NCBI36
NG_033070.1:g.78172C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000371757.7:c.2290C>A MANE Select	ENSP00000360822.2:p.Pro764Thr
ENST00000674572.1:c.2131C>A	ENSP00000501742.1:p.Pro711Thr
ENST00000675090.1:c.2038C>A	ENSP00000501833.1:p.Pro680Thr
ENST00000675399.1:c.2038C>A	ENSP00000501932.1:p.Pro680Thr
ENST00000676421.1:c.2047C>A	ENSP00000502322.1:p.Pro683Thr
ENST00000263604.5:c.2191C>A	ENSP00000263604.4:p.Pro731Thr
ENST00000371757.6:c.2290C>A	ENSP00000360822.2:p.Pro764Thr
ENST00000460750.5:c.*1900C>A	ENSP00000418777.1:n.*1900C>A
ENST00000486577.6:c.2173C>A	ENSP00000417578.3:p.Pro725Thr
ENST00000487664.5:c.2290C>A	ENSP00000417851.2:p.Pro764Thr
ENST00000488444.6:c.2233C>A	ENSP00000419007.3:p.Pro745Thr
ENST00000490355.6:c.2227C>A	ENSP00000418003.3:p.Pro743Thr
ENST00000490363.3:n.2109C>A
ENST00000491806.6:c.2233C>A	ENSP00000419086.3:p.Pro745Thr
ENST00000628528.2:c.2155C>A	ENSP00000486374.1:p.Pro719Thr
ENST00000630792.2:c.2125C>A	ENSP00000486486.1:p.Pro709Thr
ENST00000631073.2:c.2233C>A	ENSP00000486130.1:p.Pro745Thr
ENST00000631193.1:c.139C>A	ENSP00000486830.1:p.Pro47Thr
NM_001272003.1:c.2155C>A	NP_001258932.1:p.Pro719Thr
NM_020822.2:c.2290C>A	NP_065873.2:p.Pro764Thr
XM_011518877.1:c.2425C>A	XP_011517179.1:p.Pro809Thr
XM_011518878.1:c.2434C>A	XP_011517180.1:p.Pro812Thr
XM_011518879.1:c.2425C>A	XP_011517181.1:p.Pro809Thr
XM_011518880.1:c.2191C>A	XP_011517182.1:p.Pro731Thr
XM_011518881.1:c.1780C>A	XP_011517183.1:p.Pro594Thr
XM_011518877.3:c.2425C>A	XP_011517179.1:p.Pro809Thr
XM_011518878.3:c.2434C>A	XP_011517180.1:p.Pro812Thr
XM_011518879.3:c.2425C>A	XP_011517181.1:p.Pro809Thr
XM_011518881.3:c.1780C>A	XP_011517183.1:p.Pro594Thr
XM_017014931.1:c.2224C>A	XP_016870420.1:p.Pro742Thr
XM_017014932.1:c.2047C>A	XP_016870421.1:p.Pro683Thr
XM_017014933.1:c.1780C>A	XP_016870422.1:p.Pro594Thr
XM_024447617.1:c.1780C>A	XP_024303385.1:p.Pro594Thr
XM_024447618.1:c.1780C>A	XP_024303386.1:p.Pro594Thr
NM_020822.3:c.2290C>A MANE Select	NP_065873.2:p.Pro764Thr
NM_001272003.2:c.2155C>A	NP_001258932.1:p.Pro719Thr