Canonical Allele Identifier: CA375645099

Gene: NOTCH1

Linked Data

• dbSNP Id: rs1206827343
• gnomAD v2: 9-139399375-A-G
• gnomAD v4: 9-136504923-A-G
• MyVariant Identifiers: chr9:g.139399375A>G (hg19) ; chr9:g.136504923A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504923A>G , CM000671.2:g.136504923A>G	GRCh38
NC_000009.11:g.139399375A>G , CM000671.1:g.139399375A>G	GRCh37
NC_000009.10:g.138519196A>G	NCBI36
NG_007458.1:g.45864T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2575T>C
ENST00000651671.1:c.4768T>C MANE Select	ENSP00000498587.1:p.Phe1590Leu
ENST00000679595.1:c.4768T>C	ENSP00000506241.1:p.Phe1590Leu
ENST00000680133.1:c.4654T>C	ENSP00000505319.1:p.Phe1552Leu
ENST00000680218.1:c.4648T>C	ENSP00000505339.1:p.Phe1550Leu
ENST00000680668.1:c.4654T>C	ENSP00000506336.1:p.Phe1552Leu
ENST00000680778.1:c.2365T>C	ENSP00000506033.1:p.Phe789Leu
ENST00000680924.1:c.*2168T>C	ENSP00000506031.1:n.*2168T>C
ENST00000681135.1:c.*2377T>C	ENSP00000506636.1:n.*2377T>C
ENST00000681298.1:n.1581T>C
ENST00000681454.1:c.*4004T>C	ENSP00000505763.1:n.*4004T>C
ENST00000277541.6:c.4768T>C	ENSP00000277541.6:p.Phe1590Leu
NM_017617.3:c.4768T>C	NP_060087.3:p.Phe1590Leu
XM_011518717.1:c.4069T>C	XP_011517019.1:p.Phe1357Leu
NM_017617.5:c.4768T>C MANE Select	NP_060087.3:p.Phe1590Leu
XM_011518717.2:c.4045T>C	XP_011517019.2:p.Phe1349Leu