Canonical Allele Identifier: CA375634054

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133321827
• MyVariant Identifiers: chr9:g.139393424G>C (hg19) ; chr9:g.136498972G>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6107C>G MANE Select	ENSP00000498587.1:p.Ala2036Gly
ENST00000679595.1:c.*1147C>G	ENSP00000506241.1:n.*1147C>G
ENST00000679969.1:n.2703C>G
ENST00000680003.1:n.2439C>G
ENST00000680133.1:c.5993C>G	ENSP00000505319.1:p.Ala1998Gly
ENST00000680218.1:c.5987C>G	ENSP00000505339.1:p.Ala1996Gly
ENST00000680668.1:c.5993C>G	ENSP00000506336.1:p.Ala1998Gly
ENST00000680778.1:c.3704C>G	ENSP00000506033.1:p.Ala1235Gly
ENST00000680924.1:c.*3507C>G	ENSP00000506031.1:n.*3507C>G
ENST00000681135.1:c.*3716C>G	ENSP00000506636.1:n.*3716C>G
ENST00000681298.1:n.4212C>G
ENST00000681454.1:c.*5343C>G	ENSP00000505763.1:n.*5343C>G
ENST00000277541.6:c.6107C>G	ENSP00000277541.6:p.Ala2036Gly
NM_017617.3:c.6107C>G	NP_060087.3:p.Ala2036Gly
XM_011518717.1:c.5408C>G	XP_011517019.1:p.Ala1803Gly
NM_017617.5:c.6107C>G MANE Select	NP_060087.3:p.Ala2036Gly
XM_011518717.2:c.5384C>G	XP_011517019.2:p.Ala1795Gly