Canonical Allele Identifier: CA375631801

Gene: NOTCH1

Linked Data

• dbSNP Id: rs1326497239
• MyVariant Identifiers: chr9:g.139391772C>G (hg19) ; chr9:g.136497320C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497320C>G , CM000671.2:g.136497320C>G	GRCh38
NC_000009.11:g.139391772C>G , CM000671.1:g.139391772C>G	GRCh37
NC_000009.10:g.138511593C>G	NCBI36
NG_007458.1:g.53467G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6419G>C MANE Select	ENSP00000498587.1:p.Cys2140Ser
ENST00000679595.1:c.*1459G>C	ENSP00000506241.1:n.*1459G>C
ENST00000679969.1:n.3015G>C
ENST00000680003.1:n.2751G>C
ENST00000680133.1:c.6305G>C	ENSP00000505319.1:p.Cys2102Ser
ENST00000680218.1:c.6299G>C	ENSP00000505339.1:p.Cys2100Ser
ENST00000680668.1:c.6305G>C	ENSP00000506336.1:p.Cys2102Ser
ENST00000680778.1:c.4016G>C	ENSP00000506033.1:p.Cys1339Ser
ENST00000680924.1:c.*3819G>C	ENSP00000506031.1:n.*3819G>C
ENST00000681135.1:c.*4028G>C	ENSP00000506636.1:n.*4028G>C
ENST00000681298.1:n.4524G>C
ENST00000681454.1:c.*5655G>C	ENSP00000505763.1:n.*5655G>C
ENST00000277541.6:c.6419G>C	ENSP00000277541.6:p.Cys2140Ser
NM_017617.3:c.6419G>C	NP_060087.3:p.Cys2140Ser
XM_011518717.1:c.5720G>C	XP_011517019.1:p.Cys1907Ser
NM_017617.5:c.6419G>C MANE Select	NP_060087.3:p.Cys2140Ser
XM_011518717.2:c.5696G>C	XP_011517019.2:p.Cys1899Ser