Canonical Allele Identifier: CA375644657

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133336400
• MyVariant Identifiers: chr9:g.139399287T>A (hg19) ; chr9:g.136504835T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504835T>A , CM000671.2:g.136504835T>A	GRCh38
NC_000009.11:g.139399287T>A , CM000671.1:g.139399287T>A	GRCh37
NC_000009.10:g.138519108T>A	NCBI36
NG_007458.1:g.45952A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2663A>T
ENST00000651671.1:c.4856A>T MANE Select	ENSP00000498587.1:p.Tyr1619Phe
ENST00000679595.1:c.4856A>T	ENSP00000506241.1:p.Tyr1619Phe
ENST00000680133.1:c.4742A>T	ENSP00000505319.1:p.Tyr1581Phe
ENST00000680218.1:c.4736A>T	ENSP00000505339.1:p.Tyr1579Phe
ENST00000680668.1:c.4742A>T	ENSP00000506336.1:p.Tyr1581Phe
ENST00000680778.1:c.2453A>T	ENSP00000506033.1:p.Tyr818Phe
ENST00000680924.1:c.*2256A>T	ENSP00000506031.1:n.*2256A>T
ENST00000681135.1:c.*2465A>T	ENSP00000506636.1:n.*2465A>T
ENST00000681298.1:n.1669A>T
ENST00000681454.1:c.*4092A>T	ENSP00000505763.1:n.*4092A>T
ENST00000277541.6:c.4856A>T	ENSP00000277541.6:p.Tyr1619Phe
ENST00000494783.1:n.11A>T
NM_017617.3:c.4856A>T	NP_060087.3:p.Tyr1619Phe
XM_011518717.1:c.4157A>T	XP_011517019.1:p.Tyr1386Phe
NM_017617.5:c.4856A>T MANE Select	NP_060087.3:p.Tyr1619Phe
XM_011518717.2:c.4133A>T	XP_011517019.2:p.Tyr1378Phe