Canonical Allele Identifier: CA375494731

Gene: KCNT1

Linked Data

• MyVariant Identifiers: chr9:g.138641966A>C (hg19) ; chr9:g.135750120A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135750120A>C , CM000671.2:g.135750120A>C	GRCh38
NC_000009.11:g.138641966A>C , CM000671.1:g.138641966A>C	GRCh37
NC_000009.10:g.137781787A>C	NCBI36
NG_033070.1:g.52936A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.277A>C MANE Select	ENSP00000360822.2:p.Asn93His
ENST00000637018.1:n.82A>C
ENST00000638123.1:n.12A>C
ENST00000674572.1:c.118A>C	ENSP00000501742.1:p.Asn40His
ENST00000675090.1:c.25A>C	ENSP00000501833.1:p.Asn9His
ENST00000675399.1:c.25A>C	ENSP00000501932.1:p.Asn9His
ENST00000676421.1:c.25A>C	ENSP00000502322.1:p.Asn9His
ENST00000263604.5:c.178A>C	ENSP00000263604.4:p.Asn60His
ENST00000371757.6:c.277A>C	ENSP00000360822.2:p.Asn93His
ENST00000460750.5:c.277A>C	ENSP00000418777.1:p.Asn93His
ENST00000473941.5:c.118A>C	ENSP00000420764.1:p.Asn40His
ENST00000486577.6:c.160A>C	ENSP00000417578.3:p.Asn54His
ENST00000487664.5:c.277A>C	ENSP00000417851.2:p.Asn93His
ENST00000488444.6:c.220A>C	ENSP00000419007.3:p.Asn74His
ENST00000490355.6:c.220A>C	ENSP00000418003.3:p.Asn74His
ENST00000491806.6:c.220A>C	ENSP00000419086.3:p.Asn74His
ENST00000628528.2:c.133A>C	ENSP00000486374.1:p.Asn45His
ENST00000630792.2:c.118A>C	ENSP00000486486.1:p.Asn40His
ENST00000631073.2:c.220A>C	ENSP00000486130.1:p.Asn74His
NM_001272003.1:c.133A>C	NP_001258932.1:p.Asn45His
NM_020822.2:c.277A>C	NP_065873.2:p.Asn93His
XM_011518877.1:c.412A>C	XP_011517179.1:p.Asn138His
XM_011518878.1:c.412A>C	XP_011517180.1:p.Asn138His
XM_011518879.1:c.412A>C	XP_011517181.1:p.Asn138His
XM_011518880.1:c.178A>C	XP_011517182.1:p.Asn60His
XM_011518877.3:c.412A>C	XP_011517179.1:p.Asn138His
XM_011518878.3:c.412A>C	XP_011517180.1:p.Asn138His
XM_011518879.3:c.412A>C	XP_011517181.1:p.Asn138His
XM_017014931.1:c.302A>C	XP_016870420.1:p.Gln101Pro
XM_017014932.1:c.25A>C	XP_016870421.1:p.Asn9His
XM_017014933.1:c.-143A>C	XP_016870422.1:n.-143A>C
XM_024447617.1:c.-243A>C	XP_024303385.1:n.-243A>C
XM_024447618.1:c.-243A>C	XP_024303386.1:n.-243A>C
NM_020822.3:c.277A>C MANE Select	NP_065873.2:p.Asn93His
NM_001272003.2:c.133A>C	NP_001258932.1:p.Asn45His