Canonical Allele Identifier: CA2721108827

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133335516

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504644A>C , CM000671.2:g.136504644A>C	GRCh38
NC_000009.11:g.139399096A>C , CM000671.1:g.139399096A>C	GRCh37
NC_000009.10:g.138518917A>C	NCBI36
NG_007458.1:g.46143T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2825+29T>G
ENST00000651671.1:c.5018+29T>G MANE Select	ENSP00000498587.1:n.5018+29T>G
ENST00000679595.1:c.5018+29T>G	ENSP00000506241.1:n.5018+29T>G
ENST00000680133.1:c.4904+29T>G	ENSP00000505319.1:n.4904+29T>G
ENST00000680218.1:c.4898+29T>G	ENSP00000505339.1:n.4898+29T>G
ENST00000680668.1:c.4904+29T>G	ENSP00000506336.1:n.4904+29T>G
ENST00000680778.1:c.2615+29T>G	ENSP00000506033.1:n.2615+29T>G
ENST00000680924.1:c.*2418+29T>G	ENSP00000506031.1:n.*2418+29T>G
ENST00000681135.1:c.*2627+29T>G	ENSP00000506636.1:n.*2627+29T>G
ENST00000681298.1:n.1831+29T>G
ENST00000681454.1:c.*4254+29T>G	ENSP00000505763.1:n.*4254+29T>G
ENST00000277541.6:c.5018+29T>G	ENSP00000277541.6:n.5018+29T>G
ENST00000494783.1:n.173+29T>G
NM_017617.3:c.5018+29T>G	NP_060087.3:n.5018+29T>G
XM_011518717.1:c.4319+29T>G	XP_011517019.1:n.4319+29T>G
NM_017617.5:c.5018+29T>G MANE Select	NP_060087.3:n.5018+29T>G
XM_011518717.2:c.4295+29T>G	XP_011517019.2:n.4295+29T>G