Canonical Allele Identifier: CA375634373

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133322705
• MyVariant Identifiers: chr9:g.139393602A>C (hg19) ; chr9:g.136499150A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136499150A>C , CM000671.2:g.136499150A>C	GRCh38
NC_000009.11:g.139393602A>C , CM000671.1:g.139393602A>C	GRCh37
NC_000009.10:g.138513423A>C	NCBI36
NG_007458.1:g.51637T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6044T>G MANE Select	ENSP00000498587.1:p.Ile2015Ser
ENST00000679595.1:c.*1084T>G	ENSP00000506241.1:n.*1084T>G
ENST00000679969.1:n.2525T>G
ENST00000680003.1:n.2376T>G
ENST00000680133.1:c.5930T>G	ENSP00000505319.1:p.Ile1977Ser
ENST00000680218.1:c.5924T>G	ENSP00000505339.1:p.Ile1975Ser
ENST00000680668.1:c.5930T>G	ENSP00000506336.1:p.Ile1977Ser
ENST00000680778.1:c.3641T>G	ENSP00000506033.1:p.Ile1214Ser
ENST00000680924.1:c.*3444T>G	ENSP00000506031.1:n.*3444T>G
ENST00000681135.1:c.*3653T>G	ENSP00000506636.1:n.*3653T>G
ENST00000681298.1:n.4149T>G
ENST00000681454.1:c.*5280T>G	ENSP00000505763.1:n.*5280T>G
ENST00000277541.6:c.6044T>G	ENSP00000277541.6:p.Ile2015Ser
NM_017617.3:c.6044T>G	NP_060087.3:p.Ile2015Ser
XM_011518717.1:c.5345T>G	XP_011517019.1:p.Ile1782Ser
NM_017617.5:c.6044T>G MANE Select	NP_060087.3:p.Ile2015Ser
XM_011518717.2:c.5321T>G	XP_011517019.2:p.Ile1774Ser