Canonical Allele Identifier: CA375631142

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133317855
• MyVariant Identifiers: chr9:g.139391601A>G (hg19) ; chr9:g.136497149A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497149A>G , CM000671.2:g.136497149A>G	GRCh38
NC_000009.11:g.139391601A>G , CM000671.1:g.139391601A>G	GRCh37
NC_000009.10:g.138511422A>G	NCBI36
NG_007458.1:g.53638T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6590T>C MANE Select	ENSP00000498587.1:p.Leu2197Pro
ENST00000679595.1:c.*1630T>C	ENSP00000506241.1:n.*1630T>C
ENST00000679969.1:n.3186T>C
ENST00000680003.1:n.2922T>C
ENST00000680133.1:c.6476T>C	ENSP00000505319.1:p.Leu2159Pro
ENST00000680218.1:c.6470T>C	ENSP00000505339.1:p.Leu2157Pro
ENST00000680668.1:c.6476T>C	ENSP00000506336.1:p.Leu2159Pro
ENST00000680778.1:c.4187T>C	ENSP00000506033.1:p.Leu1396Pro
ENST00000680924.1:c.*3990T>C	ENSP00000506031.1:n.*3990T>C
ENST00000681135.1:c.*4199T>C	ENSP00000506636.1:n.*4199T>C
ENST00000681298.1:n.4695T>C
ENST00000681454.1:c.*5826T>C	ENSP00000505763.1:n.*5826T>C
ENST00000277541.6:c.6590T>C	ENSP00000277541.6:p.Leu2197Pro
NM_017617.3:c.6590T>C	NP_060087.3:p.Leu2197Pro
XM_011518717.1:c.5891T>C	XP_011517019.1:p.Leu1964Pro
NM_017617.5:c.6590T>C MANE Select	NP_060087.3:p.Leu2197Pro
XM_011518717.2:c.5867T>C	XP_011517019.2:p.Leu1956Pro