Canonical Allele Identifier: CA375644368

Gene: NOTCH1

Linked Data

• dbSNP Id: rs1183355532
• MyVariant Identifiers: chr9:g.139399224G>C (hg19) ; chr9:g.136504772G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504772G>C , CM000671.2:g.136504772G>C	GRCh38
NC_000009.11:g.139399224G>C , CM000671.1:g.139399224G>C	GRCh37
NC_000009.10:g.138519045G>C	NCBI36
NG_007458.1:g.46015C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2726C>G
ENST00000651671.1:c.4919C>G MANE Select	ENSP00000498587.1:p.Ala1640Gly
ENST00000679595.1:c.4919C>G	ENSP00000506241.1:p.Ala1640Gly
ENST00000680133.1:c.4805C>G	ENSP00000505319.1:p.Ala1602Gly
ENST00000680218.1:c.4799C>G	ENSP00000505339.1:p.Ala1600Gly
ENST00000680668.1:c.4805C>G	ENSP00000506336.1:p.Ala1602Gly
ENST00000680778.1:c.2516C>G	ENSP00000506033.1:p.Ala839Gly
ENST00000680924.1:c.*2319C>G	ENSP00000506031.1:n.*2319C>G
ENST00000681135.1:c.*2528C>G	ENSP00000506636.1:n.*2528C>G
ENST00000681298.1:n.1732C>G
ENST00000681454.1:c.*4155C>G	ENSP00000505763.1:n.*4155C>G
ENST00000277541.6:c.4919C>G	ENSP00000277541.6:p.Ala1640Gly
ENST00000494783.1:n.74C>G
NM_017617.3:c.4919C>G	NP_060087.3:p.Ala1640Gly
XM_011518717.1:c.4220C>G	XP_011517019.1:p.Ala1407Gly
NM_017617.5:c.4919C>G MANE Select	NP_060087.3:p.Ala1640Gly
XM_011518717.2:c.4196C>G	XP_011517019.2:p.Ala1399Gly