Canonical Allele Identifier: CA375644901

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133336679
• MyVariant Identifiers: chr9:g.139399338G>C (hg19) ; chr9:g.136504886G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504886G>C , CM000671.2:g.136504886G>C	GRCh38
NC_000009.11:g.139399338G>C , CM000671.1:g.139399338G>C	GRCh37
NC_000009.10:g.138519159G>C	NCBI36
NG_007458.1:g.45901C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2612C>G
ENST00000651671.1:c.4805C>G MANE Select	ENSP00000498587.1:p.Thr1602Ser
ENST00000679595.1:c.4805C>G	ENSP00000506241.1:p.Thr1602Ser
ENST00000680133.1:c.4691C>G	ENSP00000505319.1:p.Thr1564Ser
ENST00000680218.1:c.4685C>G	ENSP00000505339.1:p.Thr1562Ser
ENST00000680668.1:c.4691C>G	ENSP00000506336.1:p.Thr1564Ser
ENST00000680778.1:c.2402C>G	ENSP00000506033.1:p.Thr801Ser
ENST00000680924.1:c.*2205C>G	ENSP00000506031.1:n.*2205C>G
ENST00000681135.1:c.*2414C>G	ENSP00000506636.1:n.*2414C>G
ENST00000681298.1:n.1618C>G
ENST00000681454.1:c.*4041C>G	ENSP00000505763.1:n.*4041C>G
ENST00000277541.6:c.4805C>G	ENSP00000277541.6:p.Thr1602Ser
NM_017617.3:c.4805C>G	NP_060087.3:p.Thr1602Ser
XM_011518717.1:c.4106C>G	XP_011517019.1:p.Thr1369Ser
NM_017617.5:c.4805C>G MANE Select	NP_060087.3:p.Thr1602Ser
XM_011518717.2:c.4082C>G	XP_011517019.2:p.Thr1361Ser