Canonical Allele Identifier: CA375644732

Gene: NOTCH1

Linked Data

• dbSNP Id: rs1454349143
• gnomAD v2: 9-139399301-C-A
• gnomAD v4: 9-136504849-C-A
• MyVariant Identifiers: chr9:g.139399301C>A (hg19) ; chr9:g.136504849C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504849C>A , CM000671.2:g.136504849C>A	GRCh38
NC_000009.11:g.139399301C>A , CM000671.1:g.139399301C>A	GRCh37
NC_000009.10:g.138519122C>A	NCBI36
NG_007458.1:g.45938G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2649G>T
ENST00000651671.1:c.4842G>T MANE Select	ENSP00000498587.1:p.Gln1614His
ENST00000679595.1:c.4842G>T	ENSP00000506241.1:p.Gln1614His
ENST00000680133.1:c.4728G>T	ENSP00000505319.1:p.Gln1576His
ENST00000680218.1:c.4722G>T	ENSP00000505339.1:p.Gln1574His
ENST00000680668.1:c.4728G>T	ENSP00000506336.1:p.Gln1576His
ENST00000680778.1:c.2439G>T	ENSP00000506033.1:p.Gln813His
ENST00000680924.1:c.*2242G>T	ENSP00000506031.1:n.*2242G>T
ENST00000681135.1:c.*2451G>T	ENSP00000506636.1:n.*2451G>T
ENST00000681298.1:n.1655G>T
ENST00000681454.1:c.*4078G>T	ENSP00000505763.1:n.*4078G>T
ENST00000277541.6:c.4842G>T	ENSP00000277541.6:p.Gln1614His
NM_017617.3:c.4842G>T	NP_060087.3:p.Gln1614His
XM_011518717.1:c.4143G>T	XP_011517019.1:p.Gln1381His
NM_017617.5:c.4842G>T MANE Select	NP_060087.3:p.Gln1614His
XM_011518717.2:c.4119G>T	XP_011517019.2:p.Gln1373His