Canonical Allele Identifier: CA375644730

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133336456
• MyVariant Identifiers: chr9:g.139399300T>G (hg19) ; chr9:g.136504848T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504848T>G , CM000671.2:g.136504848T>G	GRCh38
NC_000009.11:g.139399300T>G , CM000671.1:g.139399300T>G	GRCh37
NC_000009.10:g.138519121T>G	NCBI36
NG_007458.1:g.45939A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2650A>C
ENST00000651671.1:c.4843A>C MANE Select	ENSP00000498587.1:p.Met1615Leu
ENST00000679595.1:c.4843A>C	ENSP00000506241.1:p.Met1615Leu
ENST00000680133.1:c.4729A>C	ENSP00000505319.1:p.Met1577Leu
ENST00000680218.1:c.4723A>C	ENSP00000505339.1:p.Met1575Leu
ENST00000680668.1:c.4729A>C	ENSP00000506336.1:p.Met1577Leu
ENST00000680778.1:c.2440A>C	ENSP00000506033.1:p.Met814Leu
ENST00000680924.1:c.*2243A>C	ENSP00000506031.1:n.*2243A>C
ENST00000681135.1:c.*2452A>C	ENSP00000506636.1:n.*2452A>C
ENST00000681298.1:n.1656A>C
ENST00000681454.1:c.*4079A>C	ENSP00000505763.1:n.*4079A>C
ENST00000277541.6:c.4843A>C	ENSP00000277541.6:p.Met1615Leu
NM_017617.3:c.4843A>C	NP_060087.3:p.Met1615Leu
XM_011518717.1:c.4144A>C	XP_011517019.1:p.Met1382Leu
NM_017617.5:c.4843A>C MANE Select	NP_060087.3:p.Met1615Leu
XM_011518717.2:c.4120A>C	XP_011517019.2:p.Met1374Leu