Canonical Allele Identifier: CA375644767

Gene: NOTCH1

Linked Data

• ClinVar Variation Id: 1329311
• ClinVar RCV Id: RCV001799354
• dbSNP Id: rs1223921509
• gnomAD v2: 9-139399308-C-T
• gnomAD v4: 9-136504856-C-T
• MyVariant Identifiers: chr9:g.139399308C>T (hg19) ; chr9:g.136504856C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504856C>T , CM000671.2:g.136504856C>T	GRCh38
NC_000009.11:g.139399308C>T , CM000671.1:g.139399308C>T	GRCh37
NC_000009.10:g.138519129C>T	NCBI36
NG_007458.1:g.45931G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2642G>A
ENST00000651671.1:c.4835G>A MANE Select	ENSP00000498587.1:p.Gly1612Asp
ENST00000679595.1:c.4835G>A	ENSP00000506241.1:p.Gly1612Asp
ENST00000680133.1:c.4721G>A	ENSP00000505319.1:p.Gly1574Asp
ENST00000680218.1:c.4715G>A	ENSP00000505339.1:p.Gly1572Asp
ENST00000680668.1:c.4721G>A	ENSP00000506336.1:p.Gly1574Asp
ENST00000680778.1:c.2432G>A	ENSP00000506033.1:p.Gly811Asp
ENST00000680924.1:c.*2235G>A	ENSP00000506031.1:n.*2235G>A
ENST00000681135.1:c.*2444G>A	ENSP00000506636.1:n.*2444G>A
ENST00000681298.1:n.1648G>A
ENST00000681454.1:c.*4071G>A	ENSP00000505763.1:n.*4071G>A
ENST00000277541.6:c.4835G>A	ENSP00000277541.6:p.Gly1612Asp
NM_017617.3:c.4835G>A	NP_060087.3:p.Gly1612Asp
XM_011518717.1:c.4136G>A	XP_011517019.1:p.Gly1379Asp
NM_017617.5:c.4835G>A MANE Select	NP_060087.3:p.Gly1612Asp
XM_011518717.2:c.4112G>A	XP_011517019.2:p.Gly1371Asp