Canonical Allele Identifier: CA375644650

Gene: NOTCH1

Linked Data

• dbSNP Id: rs1468105794
• gnomAD v2: 9-139399285-A-G
• gnomAD v4: 9-136504833-A-G
• MyVariant Identifiers: chr9:g.139399285A>G (hg19) ; chr9:g.136504833A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504833A>G , CM000671.2:g.136504833A>G	GRCh38
NC_000009.11:g.139399285A>G , CM000671.1:g.139399285A>G	GRCh37
NC_000009.10:g.138519106A>G	NCBI36
NG_007458.1:g.45954T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2665T>C
ENST00000651671.1:c.4858T>C MANE Select	ENSP00000498587.1:p.Tyr1620His
ENST00000679595.1:c.4858T>C	ENSP00000506241.1:p.Tyr1620His
ENST00000680133.1:c.4744T>C	ENSP00000505319.1:p.Tyr1582His
ENST00000680218.1:c.4738T>C	ENSP00000505339.1:p.Tyr1580His
ENST00000680668.1:c.4744T>C	ENSP00000506336.1:p.Tyr1582His
ENST00000680778.1:c.2455T>C	ENSP00000506033.1:p.Tyr819His
ENST00000680924.1:c.*2258T>C	ENSP00000506031.1:n.*2258T>C
ENST00000681135.1:c.*2467T>C	ENSP00000506636.1:n.*2467T>C
ENST00000681298.1:n.1671T>C
ENST00000681454.1:c.*4094T>C	ENSP00000505763.1:n.*4094T>C
ENST00000277541.6:c.4858T>C	ENSP00000277541.6:p.Tyr1620His
ENST00000494783.1:n.13T>C
NM_017617.3:c.4858T>C	NP_060087.3:p.Tyr1620His
XM_011518717.1:c.4159T>C	XP_011517019.1:p.Tyr1387His
NM_017617.5:c.4858T>C MANE Select	NP_060087.3:p.Tyr1620His
XM_011518717.2:c.4135T>C	XP_011517019.2:p.Tyr1379His