Canonical Allele Identifier: CA201633874

Gene: NOTCH1

Linked Data

• dbSNP Id: rs1023720594
• gnomAD v4: 9-136497205-T-G
• MyVariant Identifiers: chr9:g.139391657T>G (hg19) ; chr9:g.136497205T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497205T>G , CM000671.2:g.136497205T>G	GRCh38
NC_000009.11:g.139391657T>G , CM000671.1:g.139391657T>G	GRCh37
NC_000009.10:g.138511478T>G	NCBI36
NG_007458.1:g.53582A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6534A>C MANE Select	ENSP00000498587.1:p.Ala2178=
ENST00000679595.1:c.*1574A>C	ENSP00000506241.1:n.*1574A>C
ENST00000679969.1:n.3130A>C
ENST00000680003.1:n.2866A>C
ENST00000680133.1:c.6420A>C	ENSP00000505319.1:p.Ala2140=
ENST00000680218.1:c.6414A>C	ENSP00000505339.1:p.Ala2138=
ENST00000680668.1:c.6420A>C	ENSP00000506336.1:p.Ala2140=
ENST00000680778.1:c.4131A>C	ENSP00000506033.1:p.Ala1377=
ENST00000680924.1:c.*3934A>C	ENSP00000506031.1:n.*3934A>C
ENST00000681135.1:c.*4143A>C	ENSP00000506636.1:n.*4143A>C
ENST00000681298.1:n.4639A>C
ENST00000681454.1:c.*5770A>C	ENSP00000505763.1:n.*5770A>C
ENST00000277541.6:c.6534A>C	ENSP00000277541.6:p.Ala2178=
NM_017617.3:c.6534A>C	NP_060087.3:p.Ala2178=
XM_011518717.1:c.5835A>C	XP_011517019.1:p.Ala1945=
NM_017617.5:c.6534A>C MANE Select	NP_060087.3:p.Ala2178=
XM_011518717.2:c.5811A>C	XP_011517019.2:p.Ala1937=