Canonical Allele Identifier: CA375633904

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133321651
• MyVariant Identifiers: chr9:g.139393392G>C (hg19) ; chr9:g.136498940G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136498940G>C , CM000671.2:g.136498940G>C	GRCh38
NC_000009.11:g.139393392G>C , CM000671.1:g.139393392G>C	GRCh37
NC_000009.10:g.138513213G>C	NCBI36
NG_007458.1:g.51847C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6139C>G MANE Select	ENSP00000498587.1:p.Leu2047Val
ENST00000679595.1:c.*1179C>G	ENSP00000506241.1:n.*1179C>G
ENST00000679969.1:n.2735C>G
ENST00000680003.1:n.2471C>G
ENST00000680133.1:c.6025C>G	ENSP00000505319.1:p.Leu2009Val
ENST00000680218.1:c.6019C>G	ENSP00000505339.1:p.Leu2007Val
ENST00000680668.1:c.6025C>G	ENSP00000506336.1:p.Leu2009Val
ENST00000680778.1:c.3736C>G	ENSP00000506033.1:p.Leu1246Val
ENST00000680924.1:c.*3539C>G	ENSP00000506031.1:n.*3539C>G
ENST00000681135.1:c.*3748C>G	ENSP00000506636.1:n.*3748C>G
ENST00000681298.1:n.4244C>G
ENST00000681454.1:c.*5375C>G	ENSP00000505763.1:n.*5375C>G
ENST00000277541.6:c.6139C>G	ENSP00000277541.6:p.Leu2047Val
NM_017617.3:c.6139C>G	NP_060087.3:p.Leu2047Val
XM_011518717.1:c.5440C>G	XP_011517019.1:p.Leu1814Val
NM_017617.5:c.6139C>G MANE Select	NP_060087.3:p.Leu2047Val
XM_011518717.2:c.5416C>G	XP_011517019.2:p.Leu1806Val