Canonical Allele Identifier: CA375645688

Gene: NOTCH1

Linked Data

• dbSNP Id: rs756662728
• MyVariant Identifiers: chr9:g.139399481G>C (hg19) ; chr9:g.136505029G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136505029G>C , CM000671.2:g.136505029G>C	GRCh38
NC_000009.11:g.139399481G>C , CM000671.1:g.139399481G>C	GRCh37
NC_000009.10:g.138519302G>C	NCBI36
NG_007458.1:g.45758C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2469C>G
ENST00000651671.1:c.4662C>G MANE Select	ENSP00000498587.1:p.Cys1554Trp
ENST00000679595.1:c.4662C>G	ENSP00000506241.1:p.Cys1554Trp
ENST00000680133.1:c.4548C>G	ENSP00000505319.1:p.Cys1516Trp
ENST00000680218.1:c.4542C>G	ENSP00000505339.1:p.Cys1514Trp
ENST00000680668.1:c.4548C>G	ENSP00000506336.1:p.Cys1516Trp
ENST00000680778.1:c.2259C>G	ENSP00000506033.1:p.Cys753Trp
ENST00000680924.1:c.*2062C>G	ENSP00000506031.1:n.*2062C>G
ENST00000681135.1:c.*2271C>G	ENSP00000506636.1:n.*2271C>G
ENST00000681298.1:n.1475C>G
ENST00000681454.1:c.*3898C>G	ENSP00000505763.1:n.*3898C>G
ENST00000277541.6:c.4662C>G	ENSP00000277541.6:p.Cys1554Trp
NM_017617.3:c.4662C>G	NP_060087.3:p.Cys1554Trp
XM_011518717.1:c.3963C>G	XP_011517019.1:p.Cys1321Trp
NM_017617.5:c.4662C>G MANE Select	NP_060087.3:p.Cys1554Trp
XM_011518717.2:c.3939C>G	XP_011517019.2:p.Cys1313Trp