Canonical Allele Identifier: CA467742204
Gene: NOTCH1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.139399232G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136504780G>T , CM000671.2:g.136504780G>T GRCh38
NC_000009.11:g.139399232G>T , CM000671.1:g.139399232G>T GRCh37
NC_000009.10:g.138519053G>T NCBI36
NG_007458.1:g.46007C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000645828.1:n.2718C>A
ENST00000651671.1:c.4911C>A MANE Select ENSP00000498587.1:p.Gly1637=
ENST00000679595.1:c.4911C>A ENSP00000506241.1:p.Gly1637=
ENST00000680133.1:c.4797C>A ENSP00000505319.1:p.Gly1599=
ENST00000680218.1:c.4791C>A ENSP00000505339.1:p.Gly1597=
ENST00000680668.1:c.4797C>A ENSP00000506336.1:p.Gly1599=
ENST00000680778.1:c.2508C>A ENSP00000506033.1:p.Gly836=
ENST00000680924.1:c.*2311C>A ENSP00000506031.1:n.*2311C>A
ENST00000681135.1:c.*2520C>A ENSP00000506636.1:n.*2520C>A
ENST00000681298.1:n.1724C>A
ENST00000681454.1:c.*4147C>A ENSP00000505763.1:n.*4147C>A
ENST00000277541.6:c.4911C>A ENSP00000277541.6:p.Gly1637=
ENST00000494783.1:n.66C>A
NM_017617.3:c.4911C>A NP_060087.3:p.Gly1637=
XM_011518717.1:c.4212C>A XP_011517019.1:p.Gly1404=
NM_017617.5:c.4911C>A MANE Select NP_060087.3:p.Gly1637=
XM_011518717.2:c.4188C>A XP_011517019.2:p.Gly1396=