Canonical Allele Identifier: CA375634361

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133322684
• MyVariant Identifiers: chr9:g.139393599T>G (hg19) ; chr9:g.136499147T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136499147T>G , CM000671.2:g.136499147T>G	GRCh38
NC_000009.11:g.139393599T>G , CM000671.1:g.139393599T>G	GRCh37
NC_000009.10:g.138513420T>G	NCBI36
NG_007458.1:g.51640A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6047A>C MANE Select	ENSP00000498587.1:p.Asn2016Thr
ENST00000679595.1:c.*1087A>C	ENSP00000506241.1:n.*1087A>C
ENST00000679969.1:n.2528A>C
ENST00000680003.1:n.2379A>C
ENST00000680133.1:c.5933A>C	ENSP00000505319.1:p.Asn1978Thr
ENST00000680218.1:c.5927A>C	ENSP00000505339.1:p.Asn1976Thr
ENST00000680668.1:c.5933A>C	ENSP00000506336.1:p.Asn1978Thr
ENST00000680778.1:c.3644A>C	ENSP00000506033.1:p.Asn1215Thr
ENST00000680924.1:c.*3447A>C	ENSP00000506031.1:n.*3447A>C
ENST00000681135.1:c.*3656A>C	ENSP00000506636.1:n.*3656A>C
ENST00000681298.1:n.4152A>C
ENST00000681454.1:c.*5283A>C	ENSP00000505763.1:n.*5283A>C
ENST00000277541.6:c.6047A>C	ENSP00000277541.6:p.Asn2016Thr
NM_017617.3:c.6047A>C	NP_060087.3:p.Asn2016Thr
XM_011518717.1:c.5348A>C	XP_011517019.1:p.Asn1783Thr
NM_017617.5:c.6047A>C MANE Select	NP_060087.3:p.Asn2016Thr
XM_011518717.2:c.5324A>C	XP_011517019.2:p.Asn1775Thr