Canonical Allele Identifier: CA375633988

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133321749
• MyVariant Identifiers: chr9:g.139393409A>G (hg19) ; chr9:g.136498957A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136498957A>G , CM000671.2:g.136498957A>G	GRCh38
NC_000009.11:g.139393409A>G , CM000671.1:g.139393409A>G	GRCh37
NC_000009.10:g.138513230A>G	NCBI36
NG_007458.1:g.51830T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6122T>C MANE Select	ENSP00000498587.1:p.Val2041Ala
ENST00000679595.1:c.*1162T>C	ENSP00000506241.1:n.*1162T>C
ENST00000679969.1:n.2718T>C
ENST00000680003.1:n.2454T>C
ENST00000680133.1:c.6008T>C	ENSP00000505319.1:p.Val2003Ala
ENST00000680218.1:c.6002T>C	ENSP00000505339.1:p.Val2001Ala
ENST00000680668.1:c.6008T>C	ENSP00000506336.1:p.Val2003Ala
ENST00000680778.1:c.3719T>C	ENSP00000506033.1:p.Val1240Ala
ENST00000680924.1:c.*3522T>C	ENSP00000506031.1:n.*3522T>C
ENST00000681135.1:c.*3731T>C	ENSP00000506636.1:n.*3731T>C
ENST00000681298.1:n.4227T>C
ENST00000681454.1:c.*5358T>C	ENSP00000505763.1:n.*5358T>C
ENST00000277541.6:c.6122T>C	ENSP00000277541.6:p.Val2041Ala
NM_017617.3:c.6122T>C	NP_060087.3:p.Val2041Ala
XM_011518717.1:c.5423T>C	XP_011517019.1:p.Val1808Ala
NM_017617.5:c.6122T>C MANE Select	NP_060087.3:p.Val2041Ala
XM_011518717.2:c.5399T>C	XP_011517019.2:p.Val1800Ala