Canonical Allele Identifier: CA375634042

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133321813
• MyVariant Identifiers: chr9:g.139393421G>T (hg19) ; chr9:g.136498969G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136498969G>T , CM000671.2:g.136498969G>T	GRCh38
NC_000009.11:g.139393421G>T , CM000671.1:g.139393421G>T	GRCh37
NC_000009.10:g.138513242G>T	NCBI36
NG_007458.1:g.51818C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6110C>A MANE Select	ENSP00000498587.1:p.Ala2037Asp
ENST00000679595.1:c.*1150C>A	ENSP00000506241.1:n.*1150C>A
ENST00000679969.1:n.2706C>A
ENST00000680003.1:n.2442C>A
ENST00000680133.1:c.5996C>A	ENSP00000505319.1:p.Ala1999Asp
ENST00000680218.1:c.5990C>A	ENSP00000505339.1:p.Ala1997Asp
ENST00000680668.1:c.5996C>A	ENSP00000506336.1:p.Ala1999Asp
ENST00000680778.1:c.3707C>A	ENSP00000506033.1:p.Ala1236Asp
ENST00000680924.1:c.*3510C>A	ENSP00000506031.1:n.*3510C>A
ENST00000681135.1:c.*3719C>A	ENSP00000506636.1:n.*3719C>A
ENST00000681298.1:n.4215C>A
ENST00000681454.1:c.*5346C>A	ENSP00000505763.1:n.*5346C>A
ENST00000277541.6:c.6110C>A	ENSP00000277541.6:p.Ala2037Asp
NM_017617.3:c.6110C>A	NP_060087.3:p.Ala2037Asp
XM_011518717.1:c.5411C>A	XP_011517019.1:p.Ala1804Asp
NM_017617.5:c.6110C>A MANE Select	NP_060087.3:p.Ala2037Asp
XM_011518717.2:c.5387C>A	XP_011517019.2:p.Ala1796Asp