Canonical Allele Identifier: CA375645248

Gene: NOTCH1

Linked Data

• dbSNP Id: rs1843056182
• MyVariant Identifiers: chr9:g.139399404A>T (hg19) ; chr9:g.136504952A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504952A>T , CM000671.2:g.136504952A>T	GRCh38
NC_000009.11:g.139399404A>T , CM000671.1:g.139399404A>T	GRCh37
NC_000009.10:g.138519225A>T	NCBI36
NG_007458.1:g.45835T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2546T>A
ENST00000651671.1:c.4739T>A MANE Select	ENSP00000498587.1:p.Met1580Lys
ENST00000679595.1:c.4739T>A	ENSP00000506241.1:p.Met1580Lys
ENST00000680133.1:c.4625T>A	ENSP00000505319.1:p.Met1542Lys
ENST00000680218.1:c.4619T>A	ENSP00000505339.1:p.Met1540Lys
ENST00000680668.1:c.4625T>A	ENSP00000506336.1:p.Met1542Lys
ENST00000680778.1:c.2336T>A	ENSP00000506033.1:p.Met779Lys
ENST00000680924.1:c.*2139T>A	ENSP00000506031.1:n.*2139T>A
ENST00000681135.1:c.*2348T>A	ENSP00000506636.1:n.*2348T>A
ENST00000681298.1:n.1552T>A
ENST00000681454.1:c.*3975T>A	ENSP00000505763.1:n.*3975T>A
ENST00000277541.6:c.4739T>A	ENSP00000277541.6:p.Met1580Lys
NM_017617.3:c.4739T>A	NP_060087.3:p.Met1580Lys
XM_011518717.1:c.4040T>A	XP_011517019.1:p.Met1347Lys
NM_017617.5:c.4739T>A MANE Select	NP_060087.3:p.Met1580Lys
XM_011518717.2:c.4016T>A	XP_011517019.2:p.Met1339Lys