Canonical Allele Identifier: CA467738046

Gene: NOTCH1

Linked Data

• MyVariant Identifiers: chr9:g.139393393C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136498941C>G , CM000671.2:g.136498941C>G	GRCh38
NC_000009.11:g.139393393C>G , CM000671.1:g.139393393C>G	GRCh37
NC_000009.10:g.138513214C>G	NCBI36
NG_007458.1:g.51846G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6138G>C MANE Select	ENSP00000498587.1:p.Val2046=
ENST00000679595.1:c.*1178G>C	ENSP00000506241.1:n.*1178G>C
ENST00000679969.1:n.2734G>C
ENST00000680003.1:n.2470G>C
ENST00000680133.1:c.6024G>C	ENSP00000505319.1:p.Val2008=
ENST00000680218.1:c.6018G>C	ENSP00000505339.1:p.Val2006=
ENST00000680668.1:c.6024G>C	ENSP00000506336.1:p.Val2008=
ENST00000680778.1:c.3735G>C	ENSP00000506033.1:p.Val1245=
ENST00000680924.1:c.*3538G>C	ENSP00000506031.1:n.*3538G>C
ENST00000681135.1:c.*3747G>C	ENSP00000506636.1:n.*3747G>C
ENST00000681298.1:n.4243G>C
ENST00000681454.1:c.*5374G>C	ENSP00000505763.1:n.*5374G>C
ENST00000277541.6:c.6138G>C	ENSP00000277541.6:p.Val2046=
NM_017617.3:c.6138G>C	NP_060087.3:p.Val2046=
XM_011518717.1:c.5439G>C	XP_011517019.1:p.Val1813=
NM_017617.5:c.6138G>C MANE Select	NP_060087.3:p.Val2046=
XM_011518717.2:c.5415G>C	XP_011517019.2:p.Val1805=