Canonical Allele Identifier: CA375631229

Gene: NOTCH1

Linked Data

• dbSNP Id: rs945483115
• MyVariant Identifiers: chr9:g.139391624G>C (hg19) ; chr9:g.136497172G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497172G>C , CM000671.2:g.136497172G>C	GRCh38
NC_000009.11:g.139391624G>C , CM000671.1:g.139391624G>C	GRCh37
NC_000009.10:g.138511445G>C	NCBI36
NG_007458.1:g.53615C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6567C>G MANE Select	ENSP00000498587.1:p.Cys2189Trp
ENST00000679595.1:c.*1607C>G	ENSP00000506241.1:n.*1607C>G
ENST00000679969.1:n.3163C>G
ENST00000680003.1:n.2899C>G
ENST00000680133.1:c.6453C>G	ENSP00000505319.1:p.Cys2151Trp
ENST00000680218.1:c.6447C>G	ENSP00000505339.1:p.Cys2149Trp
ENST00000680668.1:c.6453C>G	ENSP00000506336.1:p.Cys2151Trp
ENST00000680778.1:c.4164C>G	ENSP00000506033.1:p.Cys1388Trp
ENST00000680924.1:c.*3967C>G	ENSP00000506031.1:n.*3967C>G
ENST00000681135.1:c.*4176C>G	ENSP00000506636.1:n.*4176C>G
ENST00000681298.1:n.4672C>G
ENST00000681454.1:c.*5803C>G	ENSP00000505763.1:n.*5803C>G
ENST00000277541.6:c.6567C>G	ENSP00000277541.6:p.Cys2189Trp
NM_017617.3:c.6567C>G	NP_060087.3:p.Cys2189Trp
XM_011518717.1:c.5868C>G	XP_011517019.1:p.Cys1956Trp
NM_017617.5:c.6567C>G MANE Select	NP_060087.3:p.Cys2189Trp
XM_011518717.2:c.5844C>G	XP_011517019.2:p.Cys1948Trp