Canonical Allele Identifier: CA467831653

Gene: NOTCH1

Linked Data

• ClinVar Variation Id: 1539478
• ClinVar RCV Id: RCV002154601 ; RCV004044990
• dbSNP Id: rs1248949192
• gnomAD v2: 9-139390730-C-T
• gnomAD v4: 9-136496278-C-T
• MyVariant Identifiers: chr9:g.139390730C>T (hg19) ; chr9:g.136496278C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136496278C>T , CM000671.2:g.136496278C>T	GRCh38
NC_000009.11:g.139390730C>T , CM000671.1:g.139390730C>T	GRCh37
NC_000009.10:g.138510551C>T	NCBI36
NG_007458.1:g.54509G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.7461G>A MANE Select	ENSP00000498587.1:p.Gln2487=
ENST00000679595.1:c.*2501G>A	ENSP00000506241.1:n.*2501G>A
ENST00000679969.1:n.4057G>A
ENST00000680003.1:n.3793G>A
ENST00000680133.1:c.7347G>A	ENSP00000505319.1:p.Gln2449=
ENST00000680218.1:c.7341G>A	ENSP00000505339.1:p.Gln2447=
ENST00000680668.1:c.7347G>A	ENSP00000506336.1:p.Gln2449=
ENST00000680778.1:c.5058G>A	ENSP00000506033.1:p.Gln1686=
ENST00000680924.1:c.*4861G>A	ENSP00000506031.1:n.*4861G>A
ENST00000681135.1:c.*5070G>A	ENSP00000506636.1:n.*5070G>A
ENST00000681298.1:n.5566G>A
ENST00000681454.1:c.*6697G>A	ENSP00000505763.1:n.*6697G>A
ENST00000277541.6:c.7461G>A	ENSP00000277541.6:p.Gln2487=
NM_017617.3:c.7461G>A	NP_060087.3:p.Gln2487=
XM_011518717.1:c.6762G>A	XP_011517019.1:p.Gln2254=
NM_017617.5:c.7461G>A MANE Select	NP_060087.3:p.Gln2487=
XM_011518717.2:c.6738G>A	XP_011517019.2:p.Gln2246=