Canonical Allele Identifier: CA467742033

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133335945
• MyVariant Identifiers: chr9:g.139399199C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504747C>G , CM000671.2:g.136504747C>G	GRCh38
NC_000009.11:g.139399199C>G , CM000671.1:g.139399199C>G	GRCh37
NC_000009.10:g.138519020C>G	NCBI36
NG_007458.1:g.46040G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2751G>C
ENST00000651671.1:c.4944G>C MANE Select	ENSP00000498587.1:p.Val1648=
ENST00000679595.1:c.4944G>C	ENSP00000506241.1:p.Val1648=
ENST00000680133.1:c.4830G>C	ENSP00000505319.1:p.Val1610=
ENST00000680218.1:c.4824G>C	ENSP00000505339.1:p.Val1608=
ENST00000680668.1:c.4830G>C	ENSP00000506336.1:p.Val1610=
ENST00000680778.1:c.2541G>C	ENSP00000506033.1:p.Val847=
ENST00000680924.1:c.*2344G>C	ENSP00000506031.1:n.*2344G>C
ENST00000681135.1:c.*2553G>C	ENSP00000506636.1:n.*2553G>C
ENST00000681298.1:n.1757G>C
ENST00000681454.1:c.*4180G>C	ENSP00000505763.1:n.*4180G>C
ENST00000277541.6:c.4944G>C	ENSP00000277541.6:p.Val1648=
ENST00000494783.1:n.99G>C
NM_017617.3:c.4944G>C	NP_060087.3:p.Val1648=
XM_011518717.1:c.4245G>C	XP_011517019.1:p.Val1415=
NM_017617.5:c.4944G>C MANE Select	NP_060087.3:p.Val1648=
XM_011518717.2:c.4221G>C	XP_011517019.2:p.Val1407=