Canonical Allele Identifier: CA375644511

Gene: NOTCH1

Linked Data

• dbSNP Id: rs61751539
• MyVariant Identifiers: chr9:g.139399256G>C (hg19) ; chr9:g.136504804G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504804G>C , CM000671.2:g.136504804G>C	GRCh38
NC_000009.11:g.139399256G>C , CM000671.1:g.139399256G>C	GRCh37
NC_000009.10:g.138519077G>C	NCBI36
NG_007458.1:g.45983C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2694C>G
ENST00000651671.1:c.4887C>G MANE Select	ENSP00000498587.1:p.His1629Gln
ENST00000679595.1:c.4887C>G	ENSP00000506241.1:p.His1629Gln
ENST00000680133.1:c.4773C>G	ENSP00000505319.1:p.His1591Gln
ENST00000680218.1:c.4767C>G	ENSP00000505339.1:p.His1589Gln
ENST00000680668.1:c.4773C>G	ENSP00000506336.1:p.His1591Gln
ENST00000680778.1:c.2484C>G	ENSP00000506033.1:p.His828Gln
ENST00000680924.1:c.*2287C>G	ENSP00000506031.1:n.*2287C>G
ENST00000681135.1:c.*2496C>G	ENSP00000506636.1:n.*2496C>G
ENST00000681298.1:n.1700C>G
ENST00000681454.1:c.*4123C>G	ENSP00000505763.1:n.*4123C>G
ENST00000277541.6:c.4887C>G	ENSP00000277541.6:p.His1629Gln
ENST00000494783.1:n.42C>G
NM_017617.3:c.4887C>G	NP_060087.3:p.His1629Gln
XM_011518717.1:c.4188C>G	XP_011517019.1:p.His1396Gln
NM_017617.5:c.4887C>G MANE Select	NP_060087.3:p.His1629Gln
XM_011518717.2:c.4164C>G	XP_011517019.2:p.His1388Gln