Canonical Allele Identifier: CA2721107549

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133322280

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136499067G>C , CM000671.2:g.136499067G>C	GRCh38
NC_000009.11:g.139393519G>C , CM000671.1:g.139393519G>C	GRCh37
NC_000009.10:g.138513340G>C	NCBI36
NG_007458.1:g.51720C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6082+45C>G MANE Select	ENSP00000498587.1:n.6082+45C>G
ENST00000679595.1:c.*1122+45C>G	ENSP00000506241.1:n.*1122+45C>G
ENST00000679969.1:n.2608C>G
ENST00000680003.1:n.2414+45C>G
ENST00000680133.1:c.5968+45C>G	ENSP00000505319.1:n.5968+45C>G
ENST00000680218.1:c.5962+45C>G	ENSP00000505339.1:n.5962+45C>G
ENST00000680668.1:c.5968+45C>G	ENSP00000506336.1:n.5968+45C>G
ENST00000680778.1:c.3679+45C>G	ENSP00000506033.1:n.3679+45C>G
ENST00000680924.1:c.*3482+45C>G	ENSP00000506031.1:n.*3482+45C>G
ENST00000681135.1:c.*3691+45C>G	ENSP00000506636.1:n.*3691+45C>G
ENST00000681298.1:n.4187+45C>G
ENST00000681454.1:c.*5318+45C>G	ENSP00000505763.1:n.*5318+45C>G
ENST00000277541.6:c.6082+45C>G	ENSP00000277541.6:n.6082+45C>G
NM_017617.3:c.6082+45C>G	NP_060087.3:n.6082+45C>G
XM_011518717.1:c.5383+45C>G	XP_011517019.1:n.5383+45C>G
NM_017617.5:c.6082+45C>G MANE Select	NP_060087.3:n.6082+45C>G
XM_011518717.2:c.5359+45C>G	XP_011517019.2:n.5359+45C>G