Canonical Allele Identifier: CA201643921

Gene: NOTCH1

Linked Data

• dbSNP Id: rs749025461
• gnomAD v4: 9-136504853-T-C
• MyVariant Identifiers: chr9:g.139399305T>C (hg19) ; chr9:g.136504853T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504853T>C , CM000671.2:g.136504853T>C	GRCh38
NC_000009.11:g.139399305T>C , CM000671.1:g.139399305T>C	GRCh37
NC_000009.10:g.138519126T>C	NCBI36
NG_007458.1:g.45934A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2645A>G
ENST00000651671.1:c.4838A>G MANE Select	ENSP00000498587.1:p.Gln1613Arg
ENST00000679595.1:c.4838A>G	ENSP00000506241.1:p.Gln1613Arg
ENST00000680133.1:c.4724A>G	ENSP00000505319.1:p.Gln1575Arg
ENST00000680218.1:c.4718A>G	ENSP00000505339.1:p.Gln1573Arg
ENST00000680668.1:c.4724A>G	ENSP00000506336.1:p.Gln1575Arg
ENST00000680778.1:c.2435A>G	ENSP00000506033.1:p.Gln812Arg
ENST00000680924.1:c.*2238A>G	ENSP00000506031.1:n.*2238A>G
ENST00000681135.1:c.*2447A>G	ENSP00000506636.1:n.*2447A>G
ENST00000681298.1:n.1651A>G
ENST00000681454.1:c.*4074A>G	ENSP00000505763.1:n.*4074A>G
ENST00000277541.6:c.4838A>G	ENSP00000277541.6:p.Gln1613Arg
NM_017617.3:c.4838A>G	NP_060087.3:p.Gln1613Arg
XM_011518717.1:c.4139A>G	XP_011517019.1:p.Gln1380Arg
NM_017617.5:c.4838A>G MANE Select	NP_060087.3:p.Gln1613Arg
XM_011518717.2:c.4115A>G	XP_011517019.2:p.Gln1372Arg