Canonical Allele Identifier: CA375634224

Gene: NOTCH1

Linked Data

• MyVariant Identifiers: chr9:g.139393566A>C (hg19) ; chr9:g.136499114A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136499114A>C , CM000671.2:g.136499114A>C	GRCh38
NC_000009.11:g.139393566A>C , CM000671.1:g.139393566A>C	GRCh37
NC_000009.10:g.138513387A>C	NCBI36
NG_007458.1:g.51673T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6080T>G MANE Select	ENSP00000498587.1:p.Leu2027Arg
ENST00000679595.1:c.*1120T>G	ENSP00000506241.1:n.*1120T>G
ENST00000679969.1:n.2561T>G
ENST00000680003.1:n.2412T>G
ENST00000680133.1:c.5966T>G	ENSP00000505319.1:p.Leu1989Arg
ENST00000680218.1:c.5960T>G	ENSP00000505339.1:p.Leu1987Arg
ENST00000680668.1:c.5966T>G	ENSP00000506336.1:p.Leu1989Arg
ENST00000680778.1:c.3677T>G	ENSP00000506033.1:p.Leu1226Arg
ENST00000680924.1:c.*3480T>G	ENSP00000506031.1:n.*3480T>G
ENST00000681135.1:c.*3689T>G	ENSP00000506636.1:n.*3689T>G
ENST00000681298.1:n.4185T>G
ENST00000681454.1:c.*5316T>G	ENSP00000505763.1:n.*5316T>G
ENST00000277541.6:c.6080T>G	ENSP00000277541.6:p.Leu2027Arg
NM_017617.3:c.6080T>G	NP_060087.3:p.Leu2027Arg
XM_011518717.1:c.5381T>G	XP_011517019.1:p.Leu1794Arg
NM_017617.5:c.6080T>G MANE Select	NP_060087.3:p.Leu2027Arg
XM_011518717.2:c.5357T>G	XP_011517019.2:p.Leu1786Arg