Canonical Allele Identifier: CA375631315

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133318054
• MyVariant Identifiers: chr9:g.139391644A>G (hg19) ; chr9:g.136497192A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497192A>G , CM000671.2:g.136497192A>G	GRCh38
NC_000009.11:g.139391644A>G , CM000671.1:g.139391644A>G	GRCh37
NC_000009.10:g.138511465A>G	NCBI36
NG_007458.1:g.53595T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6547T>C MANE Select	ENSP00000498587.1:p.Ser2183Pro
ENST00000679595.1:c.*1587T>C	ENSP00000506241.1:n.*1587T>C
ENST00000679969.1:n.3143T>C
ENST00000680003.1:n.2879T>C
ENST00000680133.1:c.6433T>C	ENSP00000505319.1:p.Ser2145Pro
ENST00000680218.1:c.6427T>C	ENSP00000505339.1:p.Ser2143Pro
ENST00000680668.1:c.6433T>C	ENSP00000506336.1:p.Ser2145Pro
ENST00000680778.1:c.4144T>C	ENSP00000506033.1:p.Ser1382Pro
ENST00000680924.1:c.*3947T>C	ENSP00000506031.1:n.*3947T>C
ENST00000681135.1:c.*4156T>C	ENSP00000506636.1:n.*4156T>C
ENST00000681298.1:n.4652T>C
ENST00000681454.1:c.*5783T>C	ENSP00000505763.1:n.*5783T>C
ENST00000277541.6:c.6547T>C	ENSP00000277541.6:p.Ser2183Pro
NM_017617.3:c.6547T>C	NP_060087.3:p.Ser2183Pro
XM_011518717.1:c.5848T>C	XP_011517019.1:p.Ser1950Pro
NM_017617.5:c.6547T>C MANE Select	NP_060087.3:p.Ser2183Pro
XM_011518717.2:c.5824T>C	XP_011517019.2:p.Ser1942Pro