Canonical Allele Identifier: CA2692513013

Gene: KCNT1

Linked Data

• gnomAD v4: 9-135750232-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135750232G>C , CM000671.2:g.135750232G>C	GRCh38
NC_000009.11:g.138642078G>C , CM000671.1:g.138642078G>C	GRCh37
NC_000009.10:g.137781899G>C	NCBI36
NG_033070.1:g.53048G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.334+55G>C MANE Select	ENSP00000360822.2:n.334+55G>C
ENST00000638123.1:n.69+55G>C
ENST00000674572.1:c.175+55G>C	ENSP00000501742.1:n.175+55G>C
ENST00000675090.1:c.82+55G>C	ENSP00000501833.1:n.82+55G>C
ENST00000675399.1:c.82+55G>C	ENSP00000501932.1:n.82+55G>C
ENST00000676421.1:c.82+55G>C	ENSP00000502322.1:n.82+55G>C
ENST00000263604.5:c.235+55G>C	ENSP00000263604.4:n.235+55G>C
ENST00000371757.6:c.334+55G>C	ENSP00000360822.2:n.334+55G>C
ENST00000460750.5:c.334+55G>C	ENSP00000418777.1:n.334+55G>C
ENST00000473941.5:c.175+55G>C	ENSP00000420764.1:n.175+55G>C
ENST00000486577.6:c.217+55G>C	ENSP00000417578.3:n.217+55G>C
ENST00000487664.5:c.334+55G>C	ENSP00000417851.2:n.334+55G>C
ENST00000488444.6:c.277+55G>C	ENSP00000419007.3:n.277+55G>C
ENST00000490355.6:c.277+55G>C	ENSP00000418003.3:n.277+55G>C
ENST00000491806.6:c.277+55G>C	ENSP00000419086.3:n.277+55G>C
ENST00000628528.2:c.190+55G>C	ENSP00000486374.1:n.190+55G>C
ENST00000630792.2:c.175+55G>C	ENSP00000486486.1:n.175+55G>C
ENST00000631073.2:c.277+55G>C	ENSP00000486130.1:n.277+55G>C
NM_001272003.1:c.190+55G>C	NP_001258932.1:n.190+55G>C
NM_020822.2:c.334+55G>C	NP_065873.2:n.334+55G>C
XM_011518877.1:c.469+55G>C	XP_011517179.1:n.469+55G>C
XM_011518878.1:c.469+55G>C	XP_011517180.1:n.469+55G>C
XM_011518879.1:c.469+55G>C	XP_011517181.1:n.469+55G>C
XM_011518880.1:c.235+55G>C	XP_011517182.1:n.235+55G>C
XM_011518877.3:c.469+55G>C	XP_011517179.1:n.469+55G>C
XM_011518878.3:c.469+55G>C	XP_011517180.1:n.469+55G>C
XM_011518879.3:c.469+55G>C	XP_011517181.1:n.469+55G>C
XM_017014931.1:c.359+55G>C	XP_016870420.1:n.359+55G>C
XM_017014932.1:c.82+55G>C	XP_016870421.1:n.82+55G>C
XM_017014933.1:c.-86+55G>C	XP_016870422.1:n.-86+55G>C
XM_024447617.1:c.-186+55G>C	XP_024303385.1:n.-186+55G>C
XM_024447618.1:c.-186+55G>C	XP_024303386.1:n.-186+55G>C
NM_020822.3:c.334+55G>C MANE Select	NP_065873.2:n.334+55G>C
NM_001272003.2:c.190+55G>C	NP_001258932.1:n.190+55G>C