Canonical Allele Identifier: CA5340010

Gene: NOTCH1

Linked Data

• dbSNP Id: rs752603308
• ExAC: 9:139393397 A / G
• gnomAD v2: 9-139393397-A-G
• gnomAD v4: 9-136498945-A-G
• MyVariant Identifiers: chr9:g.139393397A>G (hg19) ; chr9:g.136498945A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136498945A>G , CM000671.2:g.136498945A>G	GRCh38
NC_000009.11:g.139393397A>G , CM000671.1:g.139393397A>G	GRCh37
NC_000009.10:g.138513218A>G	NCBI36
NG_007458.1:g.51842T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6134T>C MANE Select	ENSP00000498587.1:p.Val2045Ala
ENST00000679595.1:c.*1174T>C	ENSP00000506241.1:n.*1174T>C
ENST00000679969.1:n.2730T>C
ENST00000680003.1:n.2466T>C
ENST00000680133.1:c.6020T>C	ENSP00000505319.1:p.Val2007Ala
ENST00000680218.1:c.6014T>C	ENSP00000505339.1:p.Val2005Ala
ENST00000680668.1:c.6020T>C	ENSP00000506336.1:p.Val2007Ala
ENST00000680778.1:c.3731T>C	ENSP00000506033.1:p.Val1244Ala
ENST00000680924.1:c.*3534T>C	ENSP00000506031.1:n.*3534T>C
ENST00000681135.1:c.*3743T>C	ENSP00000506636.1:n.*3743T>C
ENST00000681298.1:n.4239T>C
ENST00000681454.1:c.*5370T>C	ENSP00000505763.1:n.*5370T>C
ENST00000277541.6:c.6134T>C	ENSP00000277541.6:p.Val2045Ala
NM_017617.3:c.6134T>C	NP_060087.3:p.Val2045Ala
XM_011518717.1:c.5435T>C	XP_011517019.1:p.Val1812Ala
NM_017617.5:c.6134T>C MANE Select	NP_060087.3:p.Val2045Ala
XM_011518717.2:c.5411T>C	XP_011517019.2:p.Val1804Ala