Canonical Allele Identifier: CA861079957

Gene: NOTCH1

Linked Data

• dbSNP Id: rs1177759813
• gnomAD v4: 9-136517661-A-G
• MyVariant Identifiers: chr9:g.139412113A>G (hg19) ; chr9:g.136517661A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136517661A>G , CM000671.2:g.136517661A>G	GRCh38
NC_000009.11:g.139412113A>G , CM000671.1:g.139412113A>G	GRCh37
NC_000009.10:g.138531934A>G	NCBI36
NG_007458.1:g.33126T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.1441+91T>C MANE Select	ENSP00000498587.1:n.1441+91T>C
ENST00000679595.1:c.1441+91T>C	ENSP00000506241.1:n.1441+91T>C
ENST00000680133.1:c.1441+91T>C	ENSP00000505319.1:n.1441+91T>C
ENST00000680218.1:c.1441+91T>C	ENSP00000505339.1:n.1441+91T>C
ENST00000680668.1:c.1441+91T>C	ENSP00000506336.1:n.1441+91T>C
ENST00000680924.1:c.1441+91T>C	ENSP00000506031.1:n.1441+91T>C
ENST00000681135.1:c.1441+91T>C	ENSP00000506636.1:n.1441+91T>C
ENST00000681454.1:c.*677+91T>C	ENSP00000505763.1:n.*677+91T>C
ENST00000277541.6:c.1441+91T>C	ENSP00000277541.6:n.1441+91T>C
NM_017617.3:c.1441+91T>C	NP_060087.3:n.1441+91T>C
XM_011518717.1:c.742+91T>C	XP_011517019.1:n.742+91T>C
NM_017617.5:c.1441+91T>C MANE Select	NP_060087.3:n.1441+91T>C
XM_011518717.2:c.718+91T>C	XP_011517019.2:n.718+91T>C