Canonical Allele Identifier: CA467741932

Gene: NOTCH1

Linked Data

• dbSNP Id: rs1406907945
• gnomAD v2: 9-139399166-A-C
• gnomAD v4: 9-136504714-A-C
• MyVariant Identifiers: chr9:g.139399166A>C (hg19) ; chr9:g.136504714A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504714A>C , CM000671.2:g.136504714A>C	GRCh38
NC_000009.11:g.139399166A>C , CM000671.1:g.139399166A>C	GRCh37
NC_000009.10:g.138518987A>C	NCBI36
NG_007458.1:g.46073T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2784T>G
ENST00000651671.1:c.4977T>G MANE Select	ENSP00000498587.1:p.Gly1659=
ENST00000679595.1:c.4977T>G	ENSP00000506241.1:p.Gly1659=
ENST00000680133.1:c.4863T>G	ENSP00000505319.1:p.Gly1621=
ENST00000680218.1:c.4857T>G	ENSP00000505339.1:p.Gly1619=
ENST00000680668.1:c.4863T>G	ENSP00000506336.1:p.Gly1621=
ENST00000680778.1:c.2574T>G	ENSP00000506033.1:p.Gly858=
ENST00000680924.1:c.*2377T>G	ENSP00000506031.1:n.*2377T>G
ENST00000681135.1:c.*2586T>G	ENSP00000506636.1:n.*2586T>G
ENST00000681298.1:n.1790T>G
ENST00000681454.1:c.*4213T>G	ENSP00000505763.1:n.*4213T>G
ENST00000277541.6:c.4977T>G	ENSP00000277541.6:p.Gly1659=
ENST00000494783.1:n.132T>G
NM_017617.3:c.4977T>G	NP_060087.3:p.Gly1659=
XM_011518717.1:c.4278T>G	XP_011517019.1:p.Gly1426=
NM_017617.5:c.4977T>G MANE Select	NP_060087.3:p.Gly1659=
XM_011518717.2:c.4254T>G	XP_011517019.2:p.Gly1418=