Canonical Allele Identifier: CA467832902

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133337122
• MyVariant Identifiers: chr9:g.139399406C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504954C>G , CM000671.2:g.136504954C>G	GRCh38
NC_000009.11:g.139399406C>G , CM000671.1:g.139399406C>G	GRCh37
NC_000009.10:g.138519227C>G	NCBI36
NG_007458.1:g.45833G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2544G>C
ENST00000651671.1:c.4737G>C MANE Select	ENSP00000498587.1:p.Leu1579=
ENST00000679595.1:c.4737G>C	ENSP00000506241.1:p.Leu1579=
ENST00000680133.1:c.4623G>C	ENSP00000505319.1:p.Leu1541=
ENST00000680218.1:c.4617G>C	ENSP00000505339.1:p.Leu1539=
ENST00000680668.1:c.4623G>C	ENSP00000506336.1:p.Leu1541=
ENST00000680778.1:c.2334G>C	ENSP00000506033.1:p.Leu778=
ENST00000680924.1:c.*2137G>C	ENSP00000506031.1:n.*2137G>C
ENST00000681135.1:c.*2346G>C	ENSP00000506636.1:n.*2346G>C
ENST00000681298.1:n.1550G>C
ENST00000681454.1:c.*3973G>C	ENSP00000505763.1:n.*3973G>C
ENST00000277541.6:c.4737G>C	ENSP00000277541.6:p.Leu1579=
NM_017617.3:c.4737G>C	NP_060087.3:p.Leu1579=
XM_011518717.1:c.4038G>C	XP_011517019.1:p.Leu1346=
NM_017617.5:c.4737G>C MANE Select	NP_060087.3:p.Leu1579=
XM_011518717.2:c.4014G>C	XP_011517019.2:p.Leu1338=