Canonical Allele Identifier: CA375644223

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133335887
• MyVariant Identifiers: chr9:g.139399183G>A (hg19) ; chr9:g.136504731G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504731G>A , CM000671.2:g.136504731G>A	GRCh38
NC_000009.11:g.139399183G>A , CM000671.1:g.139399183G>A	GRCh37
NC_000009.10:g.138519004G>A	NCBI36
NG_007458.1:g.46056C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2767C>T
ENST00000651671.1:c.4960C>T MANE Select	ENSP00000498587.1:p.Pro1654Ser
ENST00000679595.1:c.4960C>T	ENSP00000506241.1:p.Pro1654Ser
ENST00000680133.1:c.4846C>T	ENSP00000505319.1:p.Pro1616Ser
ENST00000680218.1:c.4840C>T	ENSP00000505339.1:p.Pro1614Ser
ENST00000680668.1:c.4846C>T	ENSP00000506336.1:p.Pro1616Ser
ENST00000680778.1:c.2557C>T	ENSP00000506033.1:p.Pro853Ser
ENST00000680924.1:c.*2360C>T	ENSP00000506031.1:n.*2360C>T
ENST00000681135.1:c.*2569C>T	ENSP00000506636.1:n.*2569C>T
ENST00000681298.1:n.1773C>T
ENST00000681454.1:c.*4196C>T	ENSP00000505763.1:n.*4196C>T
ENST00000277541.6:c.4960C>T	ENSP00000277541.6:p.Pro1654Ser
ENST00000494783.1:n.115C>T
NM_017617.3:c.4960C>T	NP_060087.3:p.Pro1654Ser
XM_011518717.1:c.4261C>T	XP_011517019.1:p.Pro1421Ser
NM_017617.5:c.4960C>T MANE Select	NP_060087.3:p.Pro1654Ser
XM_011518717.2:c.4237C>T	XP_011517019.2:p.Pro1413Ser