Canonical Allele Identifier: CA5327922

Gene: KCNT1

Linked Data

• dbSNP Id: rs572076994
• ExAC: 9:138683612 G / C
• gnomAD v2: 9-138683612-G-C
• gnomAD v3: 9-135791766-G-C
• gnomAD v4: 9-135791766-G-C
• MyVariant Identifiers: chr9:g.138683612G>C (hg19) ; chr9:g.135791766G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135791766G>C , CM000671.2:g.135791766G>C	GRCh38
NC_000009.11:g.138683612G>C , CM000671.1:g.138683612G>C	GRCh37
NC_000009.10:g.137823433G>C	NCBI36
NG_033070.1:g.94582G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.3503-31G>C MANE Select	ENSP00000360822.2:n.3503-31G>C
ENST00000674572.1:c.3407-31G>C	ENSP00000501742.1:n.3407-31G>C
ENST00000675090.1:c.3251-31G>C	ENSP00000501833.1:n.3251-31G>C
ENST00000675399.1:c.3314-31G>C	ENSP00000501932.1:n.3314-31G>C
ENST00000676421.1:c.3323-31G>C	ENSP00000502322.1:n.3323-31G>C
ENST00000263604.5:c.3467-31G>C	ENSP00000263604.4:n.3467-31G>C
ENST00000371757.6:c.3503-31G>C	ENSP00000360822.2:n.3503-31G>C
ENST00000460750.5:c.*3176-31G>C	ENSP00000418777.1:n.*3176-31G>C
ENST00000475008.1:n.2778G>C
ENST00000486577.6:c.3449-31G>C	ENSP00000417578.3:n.3449-31G>C
ENST00000487664.5:c.3566-31G>C	ENSP00000417851.2:n.3566-31G>C
ENST00000488444.6:c.3488-31G>C	ENSP00000419007.3:n.3488-31G>C
ENST00000490355.6:c.3503-31G>C	ENSP00000418003.3:n.3503-31G>C
ENST00000491806.6:c.3446-31G>C	ENSP00000419086.3:n.3446-31G>C
ENST00000628528.2:c.3431-31G>C	ENSP00000486374.1:n.3431-31G>C
ENST00000630792.2:c.3401-31G>C	ENSP00000486486.1:n.3401-31G>C
ENST00000631073.2:c.3509-31G>C	ENSP00000486130.1:n.3509-31G>C
NM_001272003.1:c.3431-31G>C	NP_001258932.1:n.3431-31G>C
NM_020822.2:c.3503-31G>C	NP_065873.2:n.3503-31G>C
XM_011518877.1:c.3701-31G>C	XP_011517179.1:n.3701-31G>C
XM_011518878.1:c.3647-31G>C	XP_011517180.1:n.3647-31G>C
XM_011518879.1:c.3638-31G>C	XP_011517181.1:n.3638-31G>C
XM_011518880.1:c.3467-31G>C	XP_011517182.1:n.3467-31G>C
XM_011518881.1:c.3056-31G>C	XP_011517183.1:n.3056-31G>C
XM_011518877.3:c.3701-31G>C	XP_011517179.1:n.3701-31G>C
XM_011518878.3:c.3647-31G>C	XP_011517180.1:n.3647-31G>C
XM_011518879.3:c.3638-31G>C	XP_011517181.1:n.3638-31G>C
XM_011518881.3:c.3056-31G>C	XP_011517183.1:n.3056-31G>C
XM_017014931.1:c.3500-31G>C	XP_016870420.1:n.3500-31G>C
XM_017014932.1:c.3323-31G>C	XP_016870421.1:n.3323-31G>C
XM_017014933.1:c.3056-31G>C	XP_016870422.1:n.3056-31G>C
XM_024447617.1:c.3056-31G>C	XP_024303385.1:n.3056-31G>C
XM_024447618.1:c.3056-31G>C	XP_024303386.1:n.3056-31G>C
XR_001746978.1:n.24C>G
NM_020822.3:c.3503-31G>C MANE Select	NP_065873.2:n.3503-31G>C
NM_001272003.2:c.3431-31G>C	NP_001258932.1:n.3431-31G>C