Canonical Allele Identifier: CA375634249

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133322525
• MyVariant Identifiers: chr9:g.139393572T>G (hg19) ; chr9:g.136499120T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136499120T>G , CM000671.2:g.136499120T>G	GRCh38
NC_000009.11:g.139393572T>G , CM000671.1:g.139393572T>G	GRCh37
NC_000009.10:g.138513393T>G	NCBI36
NG_007458.1:g.51667A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6074A>C MANE Select	ENSP00000498587.1:p.Asp2025Ala
ENST00000679595.1:c.*1114A>C	ENSP00000506241.1:n.*1114A>C
ENST00000679969.1:n.2555A>C
ENST00000680003.1:n.2406A>C
ENST00000680133.1:c.5960A>C	ENSP00000505319.1:p.Asp1987Ala
ENST00000680218.1:c.5954A>C	ENSP00000505339.1:p.Asp1985Ala
ENST00000680668.1:c.5960A>C	ENSP00000506336.1:p.Asp1987Ala
ENST00000680778.1:c.3671A>C	ENSP00000506033.1:p.Asp1224Ala
ENST00000680924.1:c.*3474A>C	ENSP00000506031.1:n.*3474A>C
ENST00000681135.1:c.*3683A>C	ENSP00000506636.1:n.*3683A>C
ENST00000681298.1:n.4179A>C
ENST00000681454.1:c.*5310A>C	ENSP00000505763.1:n.*5310A>C
ENST00000277541.6:c.6074A>C	ENSP00000277541.6:p.Asp2025Ala
NM_017617.3:c.6074A>C	NP_060087.3:p.Asp2025Ala
XM_011518717.1:c.5375A>C	XP_011517019.1:p.Asp1792Ala
NM_017617.5:c.6074A>C MANE Select	NP_060087.3:p.Asp2025Ala
XM_011518717.2:c.5351A>C	XP_011517019.2:p.Asp1784Ala