Canonical Allele Identifier: CA375493780

Gene: KCNT1

Linked Data

• dbSNP Id: rs761270493
• gnomAD v2: 9-138683661-A-C
• gnomAD v4: 9-135791815-A-C
• MyVariant Identifiers: chr9:g.138683661A>C (hg19) ; chr9:g.135791815A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135791815A>C , CM000671.2:g.135791815A>C	GRCh38
NC_000009.11:g.138683661A>C , CM000671.1:g.138683661A>C	GRCh37
NC_000009.10:g.137823482A>C	NCBI36
NG_033070.1:g.94631A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.3521A>C MANE Select	ENSP00000360822.2:p.Gln1174Pro
ENST00000674572.1:c.3425A>C	ENSP00000501742.1:p.Gln1142Pro
ENST00000675090.1:c.3269A>C	ENSP00000501833.1:p.Gln1090Pro
ENST00000675399.1:c.3332A>C	ENSP00000501932.1:p.Gln1111Pro
ENST00000676421.1:c.3341A>C	ENSP00000502322.1:p.Gln1114Pro
ENST00000263604.5:c.3485A>C	ENSP00000263604.4:p.Gln1162Pro
ENST00000371757.6:c.3521A>C	ENSP00000360822.2:p.Gln1174Pro
ENST00000460750.5:c.*3194A>C	ENSP00000418777.1:n.*3194A>C
ENST00000475008.1:n.2827A>C
ENST00000486577.6:c.3467A>C	ENSP00000417578.3:p.Gln1156Pro
ENST00000487664.5:c.3584A>C	ENSP00000417851.2:p.Gln1195Pro
ENST00000488444.6:c.3506A>C	ENSP00000419007.3:p.Gln1169Pro
ENST00000490355.6:c.3521A>C	ENSP00000418003.3:p.Gln1174Pro
ENST00000491806.6:c.3464A>C	ENSP00000419086.3:p.Gln1155Pro
ENST00000628528.2:c.3449A>C	ENSP00000486374.1:p.Gln1150Pro
ENST00000630792.2:c.3419A>C	ENSP00000486486.1:p.Gln1140Pro
ENST00000631073.2:c.3527A>C	ENSP00000486130.1:p.Gln1176Pro
NM_001272003.1:c.3449A>C	NP_001258932.1:p.Gln1150Pro
NM_020822.2:c.3521A>C	NP_065873.2:p.Gln1174Pro
XM_011518877.1:c.3719A>C	XP_011517179.1:p.Gln1240Pro
XM_011518878.1:c.3665A>C	XP_011517180.1:p.Gln1222Pro
XM_011518879.1:c.3656A>C	XP_011517181.1:p.Gln1219Pro
XM_011518880.1:c.3485A>C	XP_011517182.1:p.Gln1162Pro
XM_011518881.1:c.3074A>C	XP_011517183.1:p.Gln1025Pro
XM_011518877.3:c.3719A>C	XP_011517179.1:p.Gln1240Pro
XM_011518878.3:c.3665A>C	XP_011517180.1:p.Gln1222Pro
XM_011518879.3:c.3656A>C	XP_011517181.1:p.Gln1219Pro
XM_011518881.3:c.3074A>C	XP_011517183.1:p.Gln1025Pro
XM_017014931.1:c.3518A>C	XP_016870420.1:p.Gln1173Pro
XM_017014932.1:c.3341A>C	XP_016870421.1:p.Gln1114Pro
XM_017014933.1:c.3074A>C	XP_016870422.1:p.Gln1025Pro
XM_024447617.1:c.3074A>C	XP_024303385.1:p.Gln1025Pro
XM_024447618.1:c.3074A>C	XP_024303386.1:p.Gln1025Pro
NM_020822.3:c.3521A>C MANE Select	NP_065873.2:p.Gln1174Pro
NM_001272003.2:c.3449A>C	NP_001258932.1:p.Gln1150Pro