Canonical Allele Identifier: CA375644632

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133336370
• gnomAD v4: 9-136504829-C-A
• MyVariant Identifiers: chr9:g.139399281C>A (hg19) ; chr9:g.136504829C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504829C>A , CM000671.2:g.136504829C>A	GRCh38
NC_000009.11:g.139399281C>A , CM000671.1:g.139399281C>A	GRCh37
NC_000009.10:g.138519102C>A	NCBI36
NG_007458.1:g.45958G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2669G>T
ENST00000651671.1:c.4862G>T MANE Select	ENSP00000498587.1:p.Gly1621Val
ENST00000679595.1:c.4862G>T	ENSP00000506241.1:p.Gly1621Val
ENST00000680133.1:c.4748G>T	ENSP00000505319.1:p.Gly1583Val
ENST00000680218.1:c.4742G>T	ENSP00000505339.1:p.Gly1581Val
ENST00000680668.1:c.4748G>T	ENSP00000506336.1:p.Gly1583Val
ENST00000680778.1:c.2459G>T	ENSP00000506033.1:p.Gly820Val
ENST00000680924.1:c.*2262G>T	ENSP00000506031.1:n.*2262G>T
ENST00000681135.1:c.*2471G>T	ENSP00000506636.1:n.*2471G>T
ENST00000681298.1:n.1675G>T
ENST00000681454.1:c.*4098G>T	ENSP00000505763.1:n.*4098G>T
ENST00000277541.6:c.4862G>T	ENSP00000277541.6:p.Gly1621Val
ENST00000494783.1:n.17G>T
NM_017617.3:c.4862G>T	NP_060087.3:p.Gly1621Val
XM_011518717.1:c.4163G>T	XP_011517019.1:p.Gly1388Val
NM_017617.5:c.4862G>T MANE Select	NP_060087.3:p.Gly1621Val
XM_011518717.2:c.4139G>T	XP_011517019.2:p.Gly1380Val