Canonical Allele Identifier: CA375644346

Gene: NOTCH1

Linked Data

• dbSNP Id: rs1006086442
• gnomAD v2: 9-139399215-G-A
• gnomAD v4: 9-136504763-G-A
• MyVariant Identifiers: chr9:g.139399215G>A (hg19) ; chr9:g.136504763G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504763G>A , CM000671.2:g.136504763G>A	GRCh38
NC_000009.11:g.139399215G>A , CM000671.1:g.139399215G>A	GRCh37
NC_000009.10:g.138519036G>A	NCBI36
NG_007458.1:g.46024C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2735C>T
ENST00000651671.1:c.4928C>T MANE Select	ENSP00000498587.1:p.Ala1643Val
ENST00000679595.1:c.4928C>T	ENSP00000506241.1:p.Ala1643Val
ENST00000680133.1:c.4814C>T	ENSP00000505319.1:p.Ala1605Val
ENST00000680218.1:c.4808C>T	ENSP00000505339.1:p.Ala1603Val
ENST00000680668.1:c.4814C>T	ENSP00000506336.1:p.Ala1605Val
ENST00000680778.1:c.2525C>T	ENSP00000506033.1:p.Ala842Val
ENST00000680924.1:c.*2328C>T	ENSP00000506031.1:n.*2328C>T
ENST00000681135.1:c.*2537C>T	ENSP00000506636.1:n.*2537C>T
ENST00000681298.1:n.1741C>T
ENST00000681454.1:c.*4164C>T	ENSP00000505763.1:n.*4164C>T
ENST00000277541.6:c.4928C>T	ENSP00000277541.6:p.Ala1643Val
ENST00000494783.1:n.83C>T
NM_017617.3:c.4928C>T	NP_060087.3:p.Ala1643Val
XM_011518717.1:c.4229C>T	XP_011517019.1:p.Ala1410Val
NM_017617.5:c.4928C>T MANE Select	NP_060087.3:p.Ala1643Val
XM_011518717.2:c.4205C>T	XP_011517019.2:p.Ala1402Val