Canonical Allele Identifier: CA375645159

Gene: NOTCH1

Linked Data

• dbSNP Id: rs1478932098
• gnomAD v2: 9-139399383-T-G
• gnomAD v4: 9-136504931-T-G
• MyVariant Identifiers: chr9:g.139399383T>G (hg19) ; chr9:g.136504931T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504931T>G , CM000671.2:g.136504931T>G	GRCh38
NC_000009.11:g.139399383T>G , CM000671.1:g.139399383T>G	GRCh37
NC_000009.10:g.138519204T>G	NCBI36
NG_007458.1:g.45856A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2567A>C
ENST00000651671.1:c.4760A>C MANE Select	ENSP00000498587.1:p.Asn1587Thr
ENST00000679595.1:c.4760A>C	ENSP00000506241.1:p.Asn1587Thr
ENST00000680133.1:c.4646A>C	ENSP00000505319.1:p.Asn1549Thr
ENST00000680218.1:c.4640A>C	ENSP00000505339.1:p.Asn1547Thr
ENST00000680668.1:c.4646A>C	ENSP00000506336.1:p.Asn1549Thr
ENST00000680778.1:c.2357A>C	ENSP00000506033.1:p.Asn786Thr
ENST00000680924.1:c.*2160A>C	ENSP00000506031.1:n.*2160A>C
ENST00000681135.1:c.*2369A>C	ENSP00000506636.1:n.*2369A>C
ENST00000681298.1:n.1573A>C
ENST00000681454.1:c.*3996A>C	ENSP00000505763.1:n.*3996A>C
ENST00000277541.6:c.4760A>C	ENSP00000277541.6:p.Asn1587Thr
NM_017617.3:c.4760A>C	NP_060087.3:p.Asn1587Thr
XM_011518717.1:c.4061A>C	XP_011517019.1:p.Asn1354Thr
NM_017617.5:c.4760A>C MANE Select	NP_060087.3:p.Asn1587Thr
XM_011518717.2:c.4037A>C	XP_011517019.2:p.Asn1346Thr