Canonical Allele Identifier: CA375633985

Gene: NOTCH1

Linked Data

• dbSNP Id: rs1842956875
• gnomAD v3: 9-136498955-C-T
• gnomAD v4: 9-136498955-C-T
• MyVariant Identifiers: chr9:g.139393407C>T (hg19) ; chr9:g.136498955C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6124G>A MANE Select	ENSP00000498587.1:p.Asp2042Asn
ENST00000679595.1:c.*1164G>A	ENSP00000506241.1:n.*1164G>A
ENST00000679969.1:n.2720G>A
ENST00000680003.1:n.2456G>A
ENST00000680133.1:c.6010G>A	ENSP00000505319.1:p.Asp2004Asn
ENST00000680218.1:c.6004G>A	ENSP00000505339.1:p.Asp2002Asn
ENST00000680668.1:c.6010G>A	ENSP00000506336.1:p.Asp2004Asn
ENST00000680778.1:c.3721G>A	ENSP00000506033.1:p.Asp1241Asn
ENST00000680924.1:c.*3524G>A	ENSP00000506031.1:n.*3524G>A
ENST00000681135.1:c.*3733G>A	ENSP00000506636.1:n.*3733G>A
ENST00000681298.1:n.4229G>A
ENST00000681454.1:c.*5360G>A	ENSP00000505763.1:n.*5360G>A
ENST00000277541.6:c.6124G>A	ENSP00000277541.6:p.Asp2042Asn
NM_017617.3:c.6124G>A	NP_060087.3:p.Asp2042Asn
XM_011518717.1:c.5425G>A	XP_011517019.1:p.Asp1809Asn
NM_017617.5:c.6124G>A MANE Select	NP_060087.3:p.Asp2042Asn
XM_011518717.2:c.5401G>A	XP_011517019.2:p.Asp1801Asn