Canonical Allele Identifier: CA375492591

Gene: KCNT1 SOHLH1

Linked Data

• ClinVar Variation Id: 540584
• ClinVar RCV Id: RCV000650657
• dbSNP Id: rs368870705
• MyVariant Identifiers: chr9:g.138594166G>A (hg19) ; chr9:g.135702320G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135702320G>A , CM000671.2:g.135702320G>A	GRCh38
NC_000009.11:g.138594166G>A , CM000671.1:g.138594166G>A	GRCh37
NC_000009.10:g.137733987G>A	NCBI36
NG_033070.1:g.5136G>A
NG_033784.1:g.2209C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.62G>A (KCNT1) MANE Select	ENSP00000360822.2:p.Gly21Asp
ENST00000674066.1:n.884+1160C>T (SOHLH1)
ENST00000371757.6:c.62G>A (KCNT1)	ENSP00000360822.2:p.Gly21Asp
ENST00000460750.5:c.62G>A (KCNT1)	ENSP00000418777.1:p.Gly21Asp
ENST00000487664.5:c.62G>A (KCNT1)	ENSP00000417851.2:p.Gly21Asp
ENST00000628528.2:c.62G>A (KCNT1)	ENSP00000486374.1:p.Gly21Asp
NM_001272003.1:c.62G>A (KCNT1)	NP_001258932.1:p.Gly21Asp
NM_020822.2:c.62G>A (KCNT1)	NP_065873.2:p.Gly21Asp
XR_930435.1:n.1529C>T
XR_930436.1:n.1365C>T
NM_020822.3:c.62G>A (KCNT1) MANE Select	NP_065873.2:p.Gly21Asp
NM_001272003.2:c.62G>A (KCNT1)	NP_001258932.1:p.Gly21Asp