Canonical Allele Identifier: CA375631725

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133318604
• MyVariant Identifiers: chr9:g.139391755G>C (hg19) ; chr9:g.136497303G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497303G>C , CM000671.2:g.136497303G>C	GRCh38
NC_000009.11:g.139391755G>C , CM000671.1:g.139391755G>C	GRCh37
NC_000009.10:g.138511576G>C	NCBI36
NG_007458.1:g.53484C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6436C>G MANE Select	ENSP00000498587.1:p.Leu2146Val
ENST00000679595.1:c.*1476C>G	ENSP00000506241.1:n.*1476C>G
ENST00000679969.1:n.3032C>G
ENST00000680003.1:n.2768C>G
ENST00000680133.1:c.6322C>G	ENSP00000505319.1:p.Leu2108Val
ENST00000680218.1:c.6316C>G	ENSP00000505339.1:p.Leu2106Val
ENST00000680668.1:c.6322C>G	ENSP00000506336.1:p.Leu2108Val
ENST00000680778.1:c.4033C>G	ENSP00000506033.1:p.Leu1345Val
ENST00000680924.1:c.*3836C>G	ENSP00000506031.1:n.*3836C>G
ENST00000681135.1:c.*4045C>G	ENSP00000506636.1:n.*4045C>G
ENST00000681298.1:n.4541C>G
ENST00000681454.1:c.*5672C>G	ENSP00000505763.1:n.*5672C>G
ENST00000277541.6:c.6436C>G	ENSP00000277541.6:p.Leu2146Val
NM_017617.3:c.6436C>G	NP_060087.3:p.Leu2146Val
XM_011518717.1:c.5737C>G	XP_011517019.1:p.Leu1913Val
NM_017617.5:c.6436C>G MANE Select	NP_060087.3:p.Leu2146Val
XM_011518717.2:c.5713C>G	XP_011517019.2:p.Leu1905Val