Canonical Allele Identifier: CA375631330

Gene: NOTCH1

Linked Data

• MyVariant Identifiers: chr9:g.139391647T>G (hg19) ; chr9:g.136497195T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497195T>G , CM000671.2:g.136497195T>G	GRCh38
NC_000009.11:g.139391647T>G , CM000671.1:g.139391647T>G	GRCh37
NC_000009.10:g.138511468T>G	NCBI36
NG_007458.1:g.53592A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6544A>C MANE Select	ENSP00000498587.1:p.Lys2182Gln
ENST00000679595.1:c.*1584A>C	ENSP00000506241.1:n.*1584A>C
ENST00000679969.1:n.3140A>C
ENST00000680003.1:n.2876A>C
ENST00000680133.1:c.6430A>C	ENSP00000505319.1:p.Lys2144Gln
ENST00000680218.1:c.6424A>C	ENSP00000505339.1:p.Lys2142Gln
ENST00000680668.1:c.6430A>C	ENSP00000506336.1:p.Lys2144Gln
ENST00000680778.1:c.4141A>C	ENSP00000506033.1:p.Lys1381Gln
ENST00000680924.1:c.*3944A>C	ENSP00000506031.1:n.*3944A>C
ENST00000681135.1:c.*4153A>C	ENSP00000506636.1:n.*4153A>C
ENST00000681298.1:n.4649A>C
ENST00000681454.1:c.*5780A>C	ENSP00000505763.1:n.*5780A>C
ENST00000277541.6:c.6544A>C	ENSP00000277541.6:p.Lys2182Gln
NM_017617.3:c.6544A>C	NP_060087.3:p.Lys2182Gln
XM_011518717.1:c.5845A>C	XP_011517019.1:p.Lys1949Gln
NM_017617.5:c.6544A>C MANE Select	NP_060087.3:p.Lys2182Gln
XM_011518717.2:c.5821A>C	XP_011517019.2:p.Lys1941Gln