Canonical Allele Identifier: CA375631590

Gene: NOTCH1

Linked Data

• dbSNP Id: rs1842931985
• gnomAD v3: 9-136497267-C-G
• gnomAD v4: 9-136497267-C-G
• MyVariant Identifiers: chr9:g.139391719C>G (hg19) ; chr9:g.136497267C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497267C>G , CM000671.2:g.136497267C>G	GRCh38
NC_000009.11:g.139391719C>G , CM000671.1:g.139391719C>G	GRCh37
NC_000009.10:g.138511540C>G	NCBI36
NG_007458.1:g.53520G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6472G>C MANE Select	ENSP00000498587.1:p.Val2158Leu
ENST00000679595.1:c.*1512G>C	ENSP00000506241.1:n.*1512G>C
ENST00000679969.1:n.3068G>C
ENST00000680003.1:n.2804G>C
ENST00000680133.1:c.6358G>C	ENSP00000505319.1:p.Val2120Leu
ENST00000680218.1:c.6352G>C	ENSP00000505339.1:p.Val2118Leu
ENST00000680668.1:c.6358G>C	ENSP00000506336.1:p.Val2120Leu
ENST00000680778.1:c.4069G>C	ENSP00000506033.1:p.Val1357Leu
ENST00000680924.1:c.*3872G>C	ENSP00000506031.1:n.*3872G>C
ENST00000681135.1:c.*4081G>C	ENSP00000506636.1:n.*4081G>C
ENST00000681298.1:n.4577G>C
ENST00000681454.1:c.*5708G>C	ENSP00000505763.1:n.*5708G>C
ENST00000277541.6:c.6472G>C	ENSP00000277541.6:p.Val2158Leu
NM_017617.3:c.6472G>C	NP_060087.3:p.Val2158Leu
XM_011518717.1:c.5773G>C	XP_011517019.1:p.Val1925Leu
NM_017617.5:c.6472G>C MANE Select	NP_060087.3:p.Val2158Leu
XM_011518717.2:c.5749G>C	XP_011517019.2:p.Val1917Leu