Canonical Allele Identifier: CA375644877

Gene: NOTCH1

Linked Data

• dbSNP Id: rs763765573
• gnomAD v4: 9-136504881-C-A
• MyVariant Identifiers: chr9:g.139399333C>A (hg19) ; chr9:g.136504881C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504881C>A , CM000671.2:g.136504881C>A	GRCh38
NC_000009.11:g.139399333C>A , CM000671.1:g.139399333C>A	GRCh37
NC_000009.10:g.138519154C>A	NCBI36
NG_007458.1:g.45906G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2617G>T
ENST00000651671.1:c.4810G>T MANE Select	ENSP00000498587.1:p.Val1604Leu
ENST00000679595.1:c.4810G>T	ENSP00000506241.1:p.Val1604Leu
ENST00000680133.1:c.4696G>T	ENSP00000505319.1:p.Val1566Leu
ENST00000680218.1:c.4690G>T	ENSP00000505339.1:p.Val1564Leu
ENST00000680668.1:c.4696G>T	ENSP00000506336.1:p.Val1566Leu
ENST00000680778.1:c.2407G>T	ENSP00000506033.1:p.Val803Leu
ENST00000680924.1:c.*2210G>T	ENSP00000506031.1:n.*2210G>T
ENST00000681135.1:c.*2419G>T	ENSP00000506636.1:n.*2419G>T
ENST00000681298.1:n.1623G>T
ENST00000681454.1:c.*4046G>T	ENSP00000505763.1:n.*4046G>T
ENST00000277541.6:c.4810G>T	ENSP00000277541.6:p.Val1604Leu
NM_017617.3:c.4810G>T	NP_060087.3:p.Val1604Leu
XM_011518717.1:c.4111G>T	XP_011517019.1:p.Val1371Leu
NM_017617.5:c.4810G>T MANE Select	NP_060087.3:p.Val1604Leu
XM_011518717.2:c.4087G>T	XP_011517019.2:p.Val1363Leu