Canonical Allele Identifier: CA375644660

Gene: NOTCH1

Linked Data

• MyVariant Identifiers: chr9:g.139399288A>C (hg19) ; chr9:g.136504836A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504836A>C , CM000671.2:g.136504836A>C	GRCh38
NC_000009.11:g.139399288A>C , CM000671.1:g.139399288A>C	GRCh37
NC_000009.10:g.138519109A>C	NCBI36
NG_007458.1:g.45951T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2662T>G
ENST00000651671.1:c.4855T>G MANE Select	ENSP00000498587.1:p.Tyr1619Asp
ENST00000679595.1:c.4855T>G	ENSP00000506241.1:p.Tyr1619Asp
ENST00000680133.1:c.4741T>G	ENSP00000505319.1:p.Tyr1581Asp
ENST00000680218.1:c.4735T>G	ENSP00000505339.1:p.Tyr1579Asp
ENST00000680668.1:c.4741T>G	ENSP00000506336.1:p.Tyr1581Asp
ENST00000680778.1:c.2452T>G	ENSP00000506033.1:p.Tyr818Asp
ENST00000680924.1:c.*2255T>G	ENSP00000506031.1:n.*2255T>G
ENST00000681135.1:c.*2464T>G	ENSP00000506636.1:n.*2464T>G
ENST00000681298.1:n.1668T>G
ENST00000681454.1:c.*4091T>G	ENSP00000505763.1:n.*4091T>G
ENST00000277541.6:c.4855T>G	ENSP00000277541.6:p.Tyr1619Asp
ENST00000494783.1:n.10T>G
NM_017617.3:c.4855T>G	NP_060087.3:p.Tyr1619Asp
XM_011518717.1:c.4156T>G	XP_011517019.1:p.Tyr1386Asp
NM_017617.5:c.4855T>G MANE Select	NP_060087.3:p.Tyr1619Asp
XM_011518717.2:c.4132T>G	XP_011517019.2:p.Tyr1378Asp