Canonical Allele Identifier: CA2692642779

Gene: NOTCH1

Linked Data

• gnomAD v4: 9-136517721-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136517721C>G , CM000671.2:g.136517721C>G	GRCh38
NC_000009.11:g.139412173C>G , CM000671.1:g.139412173C>G	GRCh37
NC_000009.10:g.138531994C>G	NCBI36
NG_007458.1:g.33066G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.1441+31G>C MANE Select	ENSP00000498587.1:n.1441+31G>C
ENST00000679595.1:c.1441+31G>C	ENSP00000506241.1:n.1441+31G>C
ENST00000680133.1:c.1441+31G>C	ENSP00000505319.1:n.1441+31G>C
ENST00000680218.1:c.1441+31G>C	ENSP00000505339.1:n.1441+31G>C
ENST00000680668.1:c.1441+31G>C	ENSP00000506336.1:n.1441+31G>C
ENST00000680924.1:c.1441+31G>C	ENSP00000506031.1:n.1441+31G>C
ENST00000681135.1:c.1441+31G>C	ENSP00000506636.1:n.1441+31G>C
ENST00000681454.1:c.*677+31G>C	ENSP00000505763.1:n.*677+31G>C
ENST00000277541.6:c.1441+31G>C	ENSP00000277541.6:n.1441+31G>C
NM_017617.3:c.1441+31G>C	NP_060087.3:n.1441+31G>C
XM_011518717.1:c.742+31G>C	XP_011517019.1:n.742+31G>C
NM_017617.5:c.1441+31G>C MANE Select	NP_060087.3:n.1441+31G>C
XM_011518717.2:c.718+31G>C	XP_011517019.2:n.718+31G>C