Canonical Allele Identifier: CA375644758

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133336481
• gnomAD v4: 9-136504854-G-A
• MyVariant Identifiers: chr9:g.139399306G>A (hg19) ; chr9:g.136504854G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504854G>A , CM000671.2:g.136504854G>A	GRCh38
NC_000009.11:g.139399306G>A , CM000671.1:g.139399306G>A	GRCh37
NC_000009.10:g.138519127G>A	NCBI36
NG_007458.1:g.45933C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2644C>T
ENST00000651671.1:c.4837C>T MANE Select	ENSP00000498587.1:p.Gln1613Ter
ENST00000679595.1:c.4837C>T	ENSP00000506241.1:p.Gln1613Ter
ENST00000680133.1:c.4723C>T	ENSP00000505319.1:p.Gln1575Ter
ENST00000680218.1:c.4717C>T	ENSP00000505339.1:p.Gln1573Ter
ENST00000680668.1:c.4723C>T	ENSP00000506336.1:p.Gln1575Ter
ENST00000680778.1:c.2434C>T	ENSP00000506033.1:p.Gln812Ter
ENST00000680924.1:c.*2237C>T	ENSP00000506031.1:n.*2237C>T
ENST00000681135.1:c.*2446C>T	ENSP00000506636.1:n.*2446C>T
ENST00000681298.1:n.1650C>T
ENST00000681454.1:c.*4073C>T	ENSP00000505763.1:n.*4073C>T
ENST00000277541.6:c.4837C>T	ENSP00000277541.6:p.Gln1613Ter
NM_017617.3:c.4837C>T	NP_060087.3:p.Gln1613Ter
XM_011518717.1:c.4138C>T	XP_011517019.1:p.Gln1380Ter
NM_017617.5:c.4837C>T MANE Select	NP_060087.3:p.Gln1613Ter
XM_011518717.2:c.4114C>T	XP_011517019.2:p.Gln1372Ter