Canonical Allele Identifier: CA375644456

Gene: NOTCH1

Linked Data

• dbSNP Id: rs757260114
• MyVariant Identifiers: chr9:g.139399243C>G (hg19) ; chr9:g.136504791C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504791C>G , CM000671.2:g.136504791C>G	GRCh38
NC_000009.11:g.139399243C>G , CM000671.1:g.139399243C>G	GRCh37
NC_000009.10:g.138519064C>G	NCBI36
NG_007458.1:g.45996G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2707G>C
ENST00000651671.1:c.4900G>C MANE Select	ENSP00000498587.1:p.Ala1634Pro
ENST00000679595.1:c.4900G>C	ENSP00000506241.1:p.Ala1634Pro
ENST00000680133.1:c.4786G>C	ENSP00000505319.1:p.Ala1596Pro
ENST00000680218.1:c.4780G>C	ENSP00000505339.1:p.Ala1594Pro
ENST00000680668.1:c.4786G>C	ENSP00000506336.1:p.Ala1596Pro
ENST00000680778.1:c.2497G>C	ENSP00000506033.1:p.Ala833Pro
ENST00000680924.1:c.*2300G>C	ENSP00000506031.1:n.*2300G>C
ENST00000681135.1:c.*2509G>C	ENSP00000506636.1:n.*2509G>C
ENST00000681298.1:n.1713G>C
ENST00000681454.1:c.*4136G>C	ENSP00000505763.1:n.*4136G>C
ENST00000277541.6:c.4900G>C	ENSP00000277541.6:p.Ala1634Pro
ENST00000494783.1:n.55G>C
NM_017617.3:c.4900G>C	NP_060087.3:p.Ala1634Pro
XM_011518717.1:c.4201G>C	XP_011517019.1:p.Ala1401Pro
NM_017617.5:c.4900G>C MANE Select	NP_060087.3:p.Ala1634Pro
XM_011518717.2:c.4177G>C	XP_011517019.2:p.Ala1393Pro