Canonical Allele Identifier: CA375643942

Gene: NOTCH1

Linked Data

• dbSNP Id: rs780348772
• gnomAD v3: 9-136504681-G-C
• gnomAD v4: 9-136504681-G-C
• MyVariant Identifiers: chr9:g.139399133G>C (hg19) ; chr9:g.136504681G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504681G>C , CM000671.2:g.136504681G>C	GRCh38
NC_000009.11:g.139399133G>C , CM000671.1:g.139399133G>C	GRCh37
NC_000009.10:g.138518954G>C	NCBI36
NG_007458.1:g.46106C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2817C>G
ENST00000651671.1:c.5010C>G MANE Select	ENSP00000498587.1:p.Asp1670Glu
ENST00000679595.1:c.5010C>G	ENSP00000506241.1:p.Asp1670Glu
ENST00000680133.1:c.4896C>G	ENSP00000505319.1:p.Asp1632Glu
ENST00000680218.1:c.4890C>G	ENSP00000505339.1:p.Asp1630Glu
ENST00000680668.1:c.4896C>G	ENSP00000506336.1:p.Asp1632Glu
ENST00000680778.1:c.2607C>G	ENSP00000506033.1:p.Asp869Glu
ENST00000680924.1:c.*2410C>G	ENSP00000506031.1:n.*2410C>G
ENST00000681135.1:c.*2619C>G	ENSP00000506636.1:n.*2619C>G
ENST00000681298.1:n.1823C>G
ENST00000681454.1:c.*4246C>G	ENSP00000505763.1:n.*4246C>G
ENST00000277541.6:c.5010C>G	ENSP00000277541.6:p.Asp1670Glu
ENST00000494783.1:n.165C>G
NM_017617.3:c.5010C>G	NP_060087.3:p.Asp1670Glu
XM_011518717.1:c.4311C>G	XP_011517019.1:p.Asp1437Glu
NM_017617.5:c.5010C>G MANE Select	NP_060087.3:p.Asp1670Glu
XM_011518717.2:c.4287C>G	XP_011517019.2:p.Asp1429Glu