Canonical Allele Identifier: CA375634052

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133321827
• COSMIC: COSM455607 ; COSM455608
• MyVariant Identifiers: chr9:g.139393424G>A (hg19) ; chr9:g.136498972G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136498972G>A , CM000671.2:g.136498972G>A	GRCh38
NC_000009.11:g.139393424G>A , CM000671.1:g.139393424G>A	GRCh37
NC_000009.10:g.138513245G>A	NCBI36
NG_007458.1:g.51815C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6107C>T MANE Select	ENSP00000498587.1:p.Ala2036Val
ENST00000679595.1:c.*1147C>T	ENSP00000506241.1:n.*1147C>T
ENST00000679969.1:n.2703C>T
ENST00000680003.1:n.2439C>T
ENST00000680133.1:c.5993C>T	ENSP00000505319.1:p.Ala1998Val
ENST00000680218.1:c.5987C>T	ENSP00000505339.1:p.Ala1996Val
ENST00000680668.1:c.5993C>T	ENSP00000506336.1:p.Ala1998Val
ENST00000680778.1:c.3704C>T	ENSP00000506033.1:p.Ala1235Val
ENST00000680924.1:c.*3507C>T	ENSP00000506031.1:n.*3507C>T
ENST00000681135.1:c.*3716C>T	ENSP00000506636.1:n.*3716C>T
ENST00000681298.1:n.4212C>T
ENST00000681454.1:c.*5343C>T	ENSP00000505763.1:n.*5343C>T
ENST00000277541.6:c.6107C>T	ENSP00000277541.6:p.Ala2036Val
NM_017617.3:c.6107C>T	NP_060087.3:p.Ala2036Val
XM_011518717.1:c.5408C>T	XP_011517019.1:p.Ala1803Val
NM_017617.5:c.6107C>T MANE Select	NP_060087.3:p.Ala2036Val
XM_011518717.2:c.5384C>T	XP_011517019.2:p.Ala1795Val