Canonical Allele Identifier: CA375645158

Gene: NOTCH1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2567A>G
ENST00000651671.1:c.4760A>G MANE Select	ENSP00000498587.1:p.Asn1587Ser
ENST00000679595.1:c.4760A>G	ENSP00000506241.1:p.Asn1587Ser
ENST00000680133.1:c.4646A>G	ENSP00000505319.1:p.Asn1549Ser
ENST00000680218.1:c.4640A>G	ENSP00000505339.1:p.Asn1547Ser
ENST00000680668.1:c.4646A>G	ENSP00000506336.1:p.Asn1549Ser
ENST00000680778.1:c.2357A>G	ENSP00000506033.1:p.Asn786Ser
ENST00000680924.1:c.*2160A>G	ENSP00000506031.1:n.*2160A>G
ENST00000681135.1:c.*2369A>G	ENSP00000506636.1:n.*2369A>G
ENST00000681298.1:n.1573A>G
ENST00000681454.1:c.*3996A>G	ENSP00000505763.1:n.*3996A>G
ENST00000277541.6:c.4760A>G	ENSP00000277541.6:p.Asn1587Ser
NM_017617.3:c.4760A>G	NP_060087.3:p.Asn1587Ser
XM_011518717.1:c.4061A>G	XP_011517019.1:p.Asn1354Ser
NM_017617.5:c.4760A>G MANE Select	NP_060087.3:p.Asn1587Ser
XM_011518717.2:c.4037A>G	XP_011517019.2:p.Asn1346Ser