Canonical Allele Identifier: CA375505899

Gene: KCNT1

Linked Data

• gnomAD v4: 9-135769978-C-G
• MyVariant Identifiers: chr9:g.138661824C>G (hg19) ; chr9:g.135769978C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135769978C>G , CM000671.2:g.135769978C>G	GRCh38
NC_000009.11:g.138661824C>G , CM000671.1:g.138661824C>G	GRCh37
NC_000009.10:g.137801645C>G	NCBI36
NG_033070.1:g.72794C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.1542C>G MANE Select	ENSP00000360822.2:p.Tyr514Ter
ENST00000674572.1:c.1383C>G	ENSP00000501742.1:p.Tyr461Ter
ENST00000675090.1:c.1290C>G	ENSP00000501833.1:p.Tyr430Ter
ENST00000675399.1:c.1290C>G	ENSP00000501932.1:p.Tyr430Ter
ENST00000676421.1:c.1299C>G	ENSP00000502322.1:p.Tyr433Ter
ENST00000263604.5:c.1443C>G	ENSP00000263604.4:p.Tyr481Ter
ENST00000371757.6:c.1542C>G	ENSP00000360822.2:p.Tyr514Ter
ENST00000460750.5:c.*1152C>G	ENSP00000418777.1:n.*1152C>G
ENST00000486577.6:c.1425C>G	ENSP00000417578.3:p.Tyr475Ter
ENST00000487664.5:c.1542C>G	ENSP00000417851.2:p.Tyr514Ter
ENST00000488444.6:c.1485C>G	ENSP00000419007.3:p.Tyr495Ter
ENST00000490355.6:c.1485C>G	ENSP00000418003.3:p.Tyr495Ter
ENST00000490363.3:n.1361C>G
ENST00000491806.6:c.1485C>G	ENSP00000419086.3:p.Tyr495Ter
ENST00000628528.2:c.1407C>G	ENSP00000486374.1:p.Tyr469Ter
ENST00000630792.2:c.1383C>G	ENSP00000486486.1:p.Tyr461Ter
ENST00000631073.2:c.1485C>G	ENSP00000486130.1:p.Tyr495Ter
NM_001272003.1:c.1407C>G	NP_001258932.1:p.Tyr469Ter
NM_020822.2:c.1542C>G	NP_065873.2:p.Tyr514Ter
XM_011518877.1:c.1677C>G	XP_011517179.1:p.Tyr559Ter
XM_011518878.1:c.1686C>G	XP_011517180.1:p.Tyr562Ter
XM_011518879.1:c.1677C>G	XP_011517181.1:p.Tyr559Ter
XM_011518880.1:c.1443C>G	XP_011517182.1:p.Tyr481Ter
XM_011518881.1:c.1032C>G	XP_011517183.1:p.Tyr344Ter
XM_011518877.3:c.1677C>G	XP_011517179.1:p.Tyr559Ter
XM_011518878.3:c.1686C>G	XP_011517180.1:p.Tyr562Ter
XM_011518879.3:c.1677C>G	XP_011517181.1:p.Tyr559Ter
XM_011518881.3:c.1032C>G	XP_011517183.1:p.Tyr344Ter
XM_017014931.1:c.1476C>G	XP_016870420.1:p.Tyr492Ter
XM_017014932.1:c.1299C>G	XP_016870421.1:p.Tyr433Ter
XM_017014933.1:c.1032C>G	XP_016870422.1:p.Tyr344Ter
XM_024447617.1:c.1032C>G	XP_024303385.1:p.Tyr344Ter
XM_024447618.1:c.1032C>G	XP_024303386.1:p.Tyr344Ter
NM_020822.3:c.1542C>G MANE Select	NP_065873.2:p.Tyr514Ter
NM_001272003.2:c.1407C>G	NP_001258932.1:p.Tyr469Ter