Canonical Allele Identifier: CA375634392

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133322725
• MyVariant Identifiers: chr9:g.139393606G>A (hg19) ; chr9:g.136499154G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136499154G>A , CM000671.2:g.136499154G>A	GRCh38
NC_000009.11:g.139393606G>A , CM000671.1:g.139393606G>A	GRCh37
NC_000009.10:g.138513427G>A	NCBI36
NG_007458.1:g.51633C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6040C>T MANE Select	ENSP00000498587.1:p.Leu2014Phe
ENST00000679595.1:c.*1080C>T	ENSP00000506241.1:n.*1080C>T
ENST00000679969.1:n.2521C>T
ENST00000680003.1:n.2372C>T
ENST00000680133.1:c.5926C>T	ENSP00000505319.1:p.Leu1976Phe
ENST00000680218.1:c.5920C>T	ENSP00000505339.1:p.Leu1974Phe
ENST00000680668.1:c.5926C>T	ENSP00000506336.1:p.Leu1976Phe
ENST00000680778.1:c.3637C>T	ENSP00000506033.1:p.Leu1213Phe
ENST00000680924.1:c.*3440C>T	ENSP00000506031.1:n.*3440C>T
ENST00000681135.1:c.*3649C>T	ENSP00000506636.1:n.*3649C>T
ENST00000681298.1:n.4145C>T
ENST00000681454.1:c.*5276C>T	ENSP00000505763.1:n.*5276C>T
ENST00000277541.6:c.6040C>T	ENSP00000277541.6:p.Leu2014Phe
NM_017617.3:c.6040C>T	NP_060087.3:p.Leu2014Phe
XM_011518717.1:c.5341C>T	XP_011517019.1:p.Leu1781Phe
NM_017617.5:c.6040C>T MANE Select	NP_060087.3:p.Leu2014Phe
XM_011518717.2:c.5317C>T	XP_011517019.2:p.Leu1773Phe