Canonical Allele Identifier: CA375644545

Gene: NOTCH1

Linked Data

• MyVariant Identifiers: chr9:g.139399261T>G (hg19) ; chr9:g.136504809T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504809T>G , CM000671.2:g.136504809T>G	GRCh38
NC_000009.11:g.139399261T>G , CM000671.1:g.139399261T>G	GRCh37
NC_000009.10:g.138519082T>G	NCBI36
NG_007458.1:g.45978A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2689A>C
ENST00000651671.1:c.4882A>C MANE Select	ENSP00000498587.1:p.Lys1628Gln
ENST00000679595.1:c.4882A>C	ENSP00000506241.1:p.Lys1628Gln
ENST00000680133.1:c.4768A>C	ENSP00000505319.1:p.Lys1590Gln
ENST00000680218.1:c.4762A>C	ENSP00000505339.1:p.Lys1588Gln
ENST00000680668.1:c.4768A>C	ENSP00000506336.1:p.Lys1590Gln
ENST00000680778.1:c.2479A>C	ENSP00000506033.1:p.Lys827Gln
ENST00000680924.1:c.*2282A>C	ENSP00000506031.1:n.*2282A>C
ENST00000681135.1:c.*2491A>C	ENSP00000506636.1:n.*2491A>C
ENST00000681298.1:n.1695A>C
ENST00000681454.1:c.*4118A>C	ENSP00000505763.1:n.*4118A>C
ENST00000277541.6:c.4882A>C	ENSP00000277541.6:p.Lys1628Gln
ENST00000494783.1:n.37A>C
NM_017617.3:c.4882A>C	NP_060087.3:p.Lys1628Gln
XM_011518717.1:c.4183A>C	XP_011517019.1:p.Lys1395Gln
NM_017617.5:c.4882A>C MANE Select	NP_060087.3:p.Lys1628Gln
XM_011518717.2:c.4159A>C	XP_011517019.2:p.Lys1387Gln