Canonical Allele Identifier: CA375631485

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133318266
• MyVariant Identifiers: chr9:g.139391692C>G (hg19) ; chr9:g.136497240C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497240C>G , CM000671.2:g.136497240C>G	GRCh38
NC_000009.11:g.139391692C>G , CM000671.1:g.139391692C>G	GRCh37
NC_000009.10:g.138511513C>G	NCBI36
NG_007458.1:g.53547G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6499G>C MANE Select	ENSP00000498587.1:p.Ala2167Pro
ENST00000679595.1:c.*1539G>C	ENSP00000506241.1:n.*1539G>C
ENST00000679969.1:n.3095G>C
ENST00000680003.1:n.2831G>C
ENST00000680133.1:c.6385G>C	ENSP00000505319.1:p.Ala2129Pro
ENST00000680218.1:c.6379G>C	ENSP00000505339.1:p.Ala2127Pro
ENST00000680668.1:c.6385G>C	ENSP00000506336.1:p.Ala2129Pro
ENST00000680778.1:c.4096G>C	ENSP00000506033.1:p.Ala1366Pro
ENST00000680924.1:c.*3899G>C	ENSP00000506031.1:n.*3899G>C
ENST00000681135.1:c.*4108G>C	ENSP00000506636.1:n.*4108G>C
ENST00000681298.1:n.4604G>C
ENST00000681454.1:c.*5735G>C	ENSP00000505763.1:n.*5735G>C
ENST00000277541.6:c.6499G>C	ENSP00000277541.6:p.Ala2167Pro
NM_017617.3:c.6499G>C	NP_060087.3:p.Ala2167Pro
XM_011518717.1:c.5800G>C	XP_011517019.1:p.Ala1934Pro
NM_017617.5:c.6499G>C MANE Select	NP_060087.3:p.Ala2167Pro
XM_011518717.2:c.5776G>C	XP_011517019.2:p.Ala1926Pro