Canonical Allele Identifier: CA375634036

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133321802
• MyVariant Identifiers: chr9:g.139393419C>G (hg19) ; chr9:g.136498967C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136498967C>G , CM000671.2:g.136498967C>G	GRCh38
NC_000009.11:g.139393419C>G , CM000671.1:g.139393419C>G	GRCh37
NC_000009.10:g.138513240C>G	NCBI36
NG_007458.1:g.51820G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6112G>C MANE Select	ENSP00000498587.1:p.Val2038Leu
ENST00000679595.1:c.*1152G>C	ENSP00000506241.1:n.*1152G>C
ENST00000679969.1:n.2708G>C
ENST00000680003.1:n.2444G>C
ENST00000680133.1:c.5998G>C	ENSP00000505319.1:p.Val2000Leu
ENST00000680218.1:c.5992G>C	ENSP00000505339.1:p.Val1998Leu
ENST00000680668.1:c.5998G>C	ENSP00000506336.1:p.Val2000Leu
ENST00000680778.1:c.3709G>C	ENSP00000506033.1:p.Val1237Leu
ENST00000680924.1:c.*3512G>C	ENSP00000506031.1:n.*3512G>C
ENST00000681135.1:c.*3721G>C	ENSP00000506636.1:n.*3721G>C
ENST00000681298.1:n.4217G>C
ENST00000681454.1:c.*5348G>C	ENSP00000505763.1:n.*5348G>C
ENST00000277541.6:c.6112G>C	ENSP00000277541.6:p.Val2038Leu
NM_017617.3:c.6112G>C	NP_060087.3:p.Val2038Leu
XM_011518717.1:c.5413G>C	XP_011517019.1:p.Val1805Leu
NM_017617.5:c.6112G>C MANE Select	NP_060087.3:p.Val2038Leu
XM_011518717.2:c.5389G>C	XP_011517019.2:p.Val1797Leu