Canonical Allele Identifier: CA375505917

Gene: KCNT1

Linked Data

• gnomAD v4: 9-135769986-T-C
• MyVariant Identifiers: chr9:g.138661832T>C (hg19) ; chr9:g.135769986T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135769986T>C , CM000671.2:g.135769986T>C	GRCh38
NC_000009.11:g.138661832T>C , CM000671.1:g.138661832T>C	GRCh37
NC_000009.10:g.137801653T>C	NCBI36
NG_033070.1:g.72802T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000371757.7:c.1550T>C MANE Select	ENSP00000360822.2:p.Leu517Pro
ENST00000674572.1:c.1391T>C	ENSP00000501742.1:p.Leu464Pro
ENST00000675090.1:c.1298T>C	ENSP00000501833.1:p.Leu433Pro
ENST00000675399.1:c.1298T>C	ENSP00000501932.1:p.Leu433Pro
ENST00000676421.1:c.1307T>C	ENSP00000502322.1:p.Leu436Pro
ENST00000263604.5:c.1451T>C	ENSP00000263604.4:p.Leu484Pro
ENST00000371757.6:c.1550T>C	ENSP00000360822.2:p.Leu517Pro
ENST00000460750.5:c.*1160T>C	ENSP00000418777.1:n.*1160T>C
ENST00000486577.6:c.1433T>C	ENSP00000417578.3:p.Leu478Pro
ENST00000487664.5:c.1550T>C	ENSP00000417851.2:p.Leu517Pro
ENST00000488444.6:c.1493T>C	ENSP00000419007.3:p.Leu498Pro
ENST00000490355.6:c.1493T>C	ENSP00000418003.3:p.Leu498Pro
ENST00000490363.3:n.1369T>C
ENST00000491806.6:c.1493T>C	ENSP00000419086.3:p.Leu498Pro
ENST00000628528.2:c.1415T>C	ENSP00000486374.1:p.Leu472Pro
ENST00000630792.2:c.1391T>C	ENSP00000486486.1:p.Leu464Pro
ENST00000631073.2:c.1493T>C	ENSP00000486130.1:p.Leu498Pro
NM_001272003.1:c.1415T>C	NP_001258932.1:p.Leu472Pro
NM_020822.2:c.1550T>C	NP_065873.2:p.Leu517Pro
XM_011518877.1:c.1685T>C	XP_011517179.1:p.Leu562Pro
XM_011518878.1:c.1694T>C	XP_011517180.1:p.Leu565Pro
XM_011518879.1:c.1685T>C	XP_011517181.1:p.Leu562Pro
XM_011518880.1:c.1451T>C	XP_011517182.1:p.Leu484Pro
XM_011518881.1:c.1040T>C	XP_011517183.1:p.Leu347Pro
XM_011518877.3:c.1685T>C	XP_011517179.1:p.Leu562Pro
XM_011518878.3:c.1694T>C	XP_011517180.1:p.Leu565Pro
XM_011518879.3:c.1685T>C	XP_011517181.1:p.Leu562Pro
XM_011518881.3:c.1040T>C	XP_011517183.1:p.Leu347Pro
XM_017014931.1:c.1484T>C	XP_016870420.1:p.Leu495Pro
XM_017014932.1:c.1307T>C	XP_016870421.1:p.Leu436Pro
XM_017014933.1:c.1040T>C	XP_016870422.1:p.Leu347Pro
XM_024447617.1:c.1040T>C	XP_024303385.1:p.Leu347Pro
XM_024447618.1:c.1040T>C	XP_024303386.1:p.Leu347Pro
NM_020822.3:c.1550T>C MANE Select	NP_065873.2:p.Leu517Pro
NM_001272003.2:c.1415T>C	NP_001258932.1:p.Leu472Pro