Canonical Allele Identifier: CA375490721

Gene: KCNT1

Linked Data

• MyVariant Identifiers: chr9:g.138677172C>G (hg19) ; chr9:g.135785326C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135785326C>G , CM000671.2:g.135785326C>G	GRCh38
NC_000009.11:g.138677172C>G , CM000671.1:g.138677172C>G	GRCh37
NC_000009.10:g.137816993C>G	NCBI36
NG_033070.1:g.88142C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000371757.7:c.3173C>G MANE Select	ENSP00000360822.2:p.Ala1058Gly
ENST00000674572.1:c.3014C>G	ENSP00000501742.1:p.Ala1005Gly
ENST00000675090.1:c.2921C>G	ENSP00000501833.1:p.Ala974Gly
ENST00000675399.1:c.2921C>G	ENSP00000501932.1:p.Ala974Gly
ENST00000676421.1:c.2930C>G	ENSP00000502322.1:p.Ala977Gly
ENST00000263604.5:c.3074C>G	ENSP00000263604.4:p.Ala1025Gly
ENST00000371757.6:c.3173C>G	ENSP00000360822.2:p.Ala1058Gly
ENST00000460750.5:c.*2783C>G	ENSP00000418777.1:n.*2783C>G
ENST00000486577.6:c.3056C>G	ENSP00000417578.3:p.Ala1019Gly
ENST00000487664.5:c.3173C>G	ENSP00000417851.2:p.Ala1058Gly
ENST00000488444.6:c.3099+437C>G	ENSP00000419007.3:n.3099+437C>G
ENST00000490355.6:c.3110C>G	ENSP00000418003.3:p.Ala1037Gly
ENST00000490363.3:n.2992C>G
ENST00000491806.6:c.3116C>G	ENSP00000419086.3:p.Ala1039Gly
ENST00000628528.2:c.3038C>G	ENSP00000486374.1:p.Ala1013Gly
ENST00000630792.2:c.3008C>G	ENSP00000486486.1:p.Ala1003Gly
ENST00000631073.2:c.3116C>G	ENSP00000486130.1:p.Ala1039Gly
NM_001272003.1:c.3038C>G	NP_001258932.1:p.Ala1013Gly
NM_020822.2:c.3173C>G	NP_065873.2:p.Ala1058Gly
XM_011518877.1:c.3308C>G	XP_011517179.1:p.Ala1103Gly
XM_011518878.1:c.3317C>G	XP_011517180.1:p.Ala1106Gly
XM_011518879.1:c.3308C>G	XP_011517181.1:p.Ala1103Gly
XM_011518880.1:c.3074C>G	XP_011517182.1:p.Ala1025Gly
XM_011518881.1:c.2663C>G	XP_011517183.1:p.Ala888Gly
XM_011518877.3:c.3308C>G	XP_011517179.1:p.Ala1103Gly
XM_011518878.3:c.3317C>G	XP_011517180.1:p.Ala1106Gly
XM_011518879.3:c.3308C>G	XP_011517181.1:p.Ala1103Gly
XM_011518881.3:c.2663C>G	XP_011517183.1:p.Ala888Gly
XM_017014931.1:c.3107C>G	XP_016870420.1:p.Ala1036Gly
XM_017014932.1:c.2930C>G	XP_016870421.1:p.Ala977Gly
XM_017014933.1:c.2663C>G	XP_016870422.1:p.Ala888Gly
XM_024447617.1:c.2663C>G	XP_024303385.1:p.Ala888Gly
XM_024447618.1:c.2663C>G	XP_024303386.1:p.Ala888Gly
NM_020822.3:c.3173C>G MANE Select	NP_065873.2:p.Ala1058Gly
NM_001272003.2:c.3038C>G	NP_001258932.1:p.Ala1013Gly