Canonical Allele Identifier: CA375562963

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133368451
• MyVariant Identifiers: chr9:g.139412251G>C (hg19) ; chr9:g.136517799G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136517799G>C , CM000671.2:g.136517799G>C	GRCh38
NC_000009.11:g.139412251G>C , CM000671.1:g.139412251G>C	GRCh37
NC_000009.10:g.138532072G>C	NCBI36
NG_007458.1:g.32988C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.1394C>G MANE Select	ENSP00000498587.1:p.Ala465Gly
ENST00000679595.1:c.1394C>G	ENSP00000506241.1:p.Ala465Gly
ENST00000680133.1:c.1394C>G	ENSP00000505319.1:p.Ala465Gly
ENST00000680218.1:c.1394C>G	ENSP00000505339.1:p.Ala465Gly
ENST00000680668.1:c.1394C>G	ENSP00000506336.1:p.Ala465Gly
ENST00000680924.1:c.1394C>G	ENSP00000506031.1:p.Ala465Gly
ENST00000681135.1:c.1394C>G	ENSP00000506636.1:p.Ala465Gly
ENST00000681454.1:c.*630C>G	ENSP00000505763.1:n.*630C>G
ENST00000277541.6:c.1394C>G	ENSP00000277541.6:p.Ala465Gly
NM_017617.3:c.1394C>G	NP_060087.3:p.Ala465Gly
XM_011518717.1:c.695C>G	XP_011517019.1:p.Ala232Gly
NM_017617.5:c.1394C>G MANE Select	NP_060087.3:p.Ala465Gly
XM_011518717.2:c.671C>G	XP_011517019.2:p.Ala224Gly