Canonical Allele Identifier: CA375634267

Gene: NOTCH1

Linked Data

• dbSNP Id: rs774262180
• MyVariant Identifiers: chr9:g.139393576C>G (hg19) ; chr9:g.136499124C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136499124C>G , CM000671.2:g.136499124C>G	GRCh38
NC_000009.11:g.139393576C>G , CM000671.1:g.139393576C>G	GRCh37
NC_000009.10:g.138513397C>G	NCBI36
NG_007458.1:g.51663G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6070G>C MANE Select	ENSP00000498587.1:p.Val2024Leu
ENST00000679595.1:c.*1110G>C	ENSP00000506241.1:n.*1110G>C
ENST00000679969.1:n.2551G>C
ENST00000680003.1:n.2402G>C
ENST00000680133.1:c.5956G>C	ENSP00000505319.1:p.Val1986Leu
ENST00000680218.1:c.5950G>C	ENSP00000505339.1:p.Val1984Leu
ENST00000680668.1:c.5956G>C	ENSP00000506336.1:p.Val1986Leu
ENST00000680778.1:c.3667G>C	ENSP00000506033.1:p.Val1223Leu
ENST00000680924.1:c.*3470G>C	ENSP00000506031.1:n.*3470G>C
ENST00000681135.1:c.*3679G>C	ENSP00000506636.1:n.*3679G>C
ENST00000681298.1:n.4175G>C
ENST00000681454.1:c.*5306G>C	ENSP00000505763.1:n.*5306G>C
ENST00000277541.6:c.6070G>C	ENSP00000277541.6:p.Val2024Leu
NM_017617.3:c.6070G>C	NP_060087.3:p.Val2024Leu
XM_011518717.1:c.5371G>C	XP_011517019.1:p.Val1791Leu
NM_017617.5:c.6070G>C MANE Select	NP_060087.3:p.Val2024Leu
XM_011518717.2:c.5347G>C	XP_011517019.2:p.Val1783Leu