Canonical Allele Identifier: CA375631494

Gene: NOTCH1

Linked Data

• MyVariant Identifiers: chr9:g.139391694A>C (hg19) ; chr9:g.136497242A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497242A>C , CM000671.2:g.136497242A>C	GRCh38
NC_000009.11:g.139391694A>C , CM000671.1:g.139391694A>C	GRCh37
NC_000009.10:g.138511515A>C	NCBI36
NG_007458.1:g.53545T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6497T>G MANE Select	ENSP00000498587.1:p.Leu2166Arg
ENST00000679595.1:c.*1537T>G	ENSP00000506241.1:n.*1537T>G
ENST00000679969.1:n.3093T>G
ENST00000680003.1:n.2829T>G
ENST00000680133.1:c.6383T>G	ENSP00000505319.1:p.Leu2128Arg
ENST00000680218.1:c.6377T>G	ENSP00000505339.1:p.Leu2126Arg
ENST00000680668.1:c.6383T>G	ENSP00000506336.1:p.Leu2128Arg
ENST00000680778.1:c.4094T>G	ENSP00000506033.1:p.Leu1365Arg
ENST00000680924.1:c.*3897T>G	ENSP00000506031.1:n.*3897T>G
ENST00000681135.1:c.*4106T>G	ENSP00000506636.1:n.*4106T>G
ENST00000681298.1:n.4602T>G
ENST00000681454.1:c.*5733T>G	ENSP00000505763.1:n.*5733T>G
ENST00000277541.6:c.6497T>G	ENSP00000277541.6:p.Leu2166Arg
NM_017617.3:c.6497T>G	NP_060087.3:p.Leu2166Arg
XM_011518717.1:c.5798T>G	XP_011517019.1:p.Leu1933Arg
NM_017617.5:c.6497T>G MANE Select	NP_060087.3:p.Leu2166Arg
XM_011518717.2:c.5774T>G	XP_011517019.2:p.Leu1925Arg