Canonical Allele Identifier: CA375634342

Gene: NOTCH1

Linked Data

• MyVariant Identifiers: chr9:g.139393594G>A (hg19) ; chr9:g.136499142G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136499142G>A , CM000671.2:g.136499142G>A	GRCh38
NC_000009.11:g.139393594G>A , CM000671.1:g.139393594G>A	GRCh37
NC_000009.10:g.138513415G>A	NCBI36
NG_007458.1:g.51645C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6052C>T MANE Select	ENSP00000498587.1:p.His2018Tyr
ENST00000679595.1:c.*1092C>T	ENSP00000506241.1:n.*1092C>T
ENST00000679969.1:n.2533C>T
ENST00000680003.1:n.2384C>T
ENST00000680133.1:c.5938C>T	ENSP00000505319.1:p.His1980Tyr
ENST00000680218.1:c.5932C>T	ENSP00000505339.1:p.His1978Tyr
ENST00000680668.1:c.5938C>T	ENSP00000506336.1:p.His1980Tyr
ENST00000680778.1:c.3649C>T	ENSP00000506033.1:p.His1217Tyr
ENST00000680924.1:c.*3452C>T	ENSP00000506031.1:n.*3452C>T
ENST00000681135.1:c.*3661C>T	ENSP00000506636.1:n.*3661C>T
ENST00000681298.1:n.4157C>T
ENST00000681454.1:c.*5288C>T	ENSP00000505763.1:n.*5288C>T
ENST00000277541.6:c.6052C>T	ENSP00000277541.6:p.His2018Tyr
NM_017617.3:c.6052C>T	NP_060087.3:p.His2018Tyr
XM_011518717.1:c.5353C>T	XP_011517019.1:p.His1785Tyr
NM_017617.5:c.6052C>T MANE Select	NP_060087.3:p.His2018Tyr
XM_011518717.2:c.5329C>T	XP_011517019.2:p.His1777Tyr