Canonical Allele Identifier: CA375649676

Gene: NOTCH1

Linked Data

• dbSNP Id: rs1064796867
• MyVariant Identifiers: chr9:g.139400227C>G (hg19) ; chr9:g.136505775C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136505775C>G , CM000671.2:g.136505775C>G	GRCh38
NC_000009.11:g.139400227C>G , CM000671.1:g.139400227C>G	GRCh37
NC_000009.10:g.138520048C>G	NCBI36
NG_007458.1:g.45012G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000645828.1:n.1928G>C
ENST00000651671.1:c.4121G>C MANE Select	ENSP00000498587.1:p.Cys1374Ser
ENST00000679595.1:c.4121G>C	ENSP00000506241.1:p.Cys1374Ser
ENST00000680133.1:c.4007G>C	ENSP00000505319.1:p.Cys1336Ser
ENST00000680218.1:c.4001G>C	ENSP00000505339.1:p.Cys1334Ser
ENST00000680668.1:c.4007G>C	ENSP00000506336.1:p.Cys1336Ser
ENST00000680778.1:c.1718G>C	ENSP00000506033.1:p.Cys573Ser
ENST00000680924.1:c.*1521G>C	ENSP00000506031.1:n.*1521G>C
ENST00000681135.1:c.*1730G>C	ENSP00000506636.1:n.*1730G>C
ENST00000681298.1:n.934G>C
ENST00000681454.1:c.*3357G>C	ENSP00000505763.1:n.*3357G>C
ENST00000277541.6:c.4121G>C	ENSP00000277541.6:p.Cys1374Ser
NM_017617.3:c.4121G>C	NP_060087.3:p.Cys1374Ser
XM_011518717.1:c.3422G>C	XP_011517019.1:p.Cys1141Ser
NM_017617.5:c.4121G>C MANE Select	NP_060087.3:p.Cys1374Ser
XM_011518717.2:c.3398G>C	XP_011517019.2:p.Cys1133Ser