Canonical Allele Identifier: CA375633982

Gene: NOTCH1

Linked Data

• dbSNP Id: rs1842956875
• MyVariant Identifiers: chr9:g.139393407C>A (hg19) ; chr9:g.136498955C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136498955C>A , CM000671.2:g.136498955C>A	GRCh38
NC_000009.11:g.139393407C>A , CM000671.1:g.139393407C>A	GRCh37
NC_000009.10:g.138513228C>A	NCBI36
NG_007458.1:g.51832G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6124G>T MANE Select	ENSP00000498587.1:p.Asp2042Tyr
ENST00000679595.1:c.*1164G>T	ENSP00000506241.1:n.*1164G>T
ENST00000679969.1:n.2720G>T
ENST00000680003.1:n.2456G>T
ENST00000680133.1:c.6010G>T	ENSP00000505319.1:p.Asp2004Tyr
ENST00000680218.1:c.6004G>T	ENSP00000505339.1:p.Asp2002Tyr
ENST00000680668.1:c.6010G>T	ENSP00000506336.1:p.Asp2004Tyr
ENST00000680778.1:c.3721G>T	ENSP00000506033.1:p.Asp1241Tyr
ENST00000680924.1:c.*3524G>T	ENSP00000506031.1:n.*3524G>T
ENST00000681135.1:c.*3733G>T	ENSP00000506636.1:n.*3733G>T
ENST00000681298.1:n.4229G>T
ENST00000681454.1:c.*5360G>T	ENSP00000505763.1:n.*5360G>T
ENST00000277541.6:c.6124G>T	ENSP00000277541.6:p.Asp2042Tyr
NM_017617.3:c.6124G>T	NP_060087.3:p.Asp2042Tyr
XM_011518717.1:c.5425G>T	XP_011517019.1:p.Asp1809Tyr
NM_017617.5:c.6124G>T MANE Select	NP_060087.3:p.Asp2042Tyr
XM_011518717.2:c.5401G>T	XP_011517019.2:p.Asp1801Tyr