Canonical Allele Identifier: CA375633836

Gene: NOTCH1

Linked Data

• MyVariant Identifiers: chr9:g.139393381G>T (hg19) ; chr9:g.136498929G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136498929G>T , CM000671.2:g.136498929G>T	GRCh38
NC_000009.11:g.139393381G>T , CM000671.1:g.139393381G>T	GRCh37
NC_000009.10:g.138513202G>T	NCBI36
NG_007458.1:g.51858C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6150C>A MANE Select	ENSP00000498587.1:p.Asn2050Lys
ENST00000679595.1:c.*1190C>A	ENSP00000506241.1:n.*1190C>A
ENST00000679969.1:n.2746C>A
ENST00000680003.1:n.2482C>A
ENST00000680133.1:c.6036C>A	ENSP00000505319.1:p.Asn2012Lys
ENST00000680218.1:c.6030C>A	ENSP00000505339.1:p.Asn2010Lys
ENST00000680668.1:c.6036C>A	ENSP00000506336.1:p.Asn2012Lys
ENST00000680778.1:c.3747C>A	ENSP00000506033.1:p.Asn1249Lys
ENST00000680924.1:c.*3550C>A	ENSP00000506031.1:n.*3550C>A
ENST00000681135.1:c.*3759C>A	ENSP00000506636.1:n.*3759C>A
ENST00000681298.1:n.4255C>A
ENST00000681454.1:c.*5386C>A	ENSP00000505763.1:n.*5386C>A
ENST00000277541.6:c.6150C>A	ENSP00000277541.6:p.Asn2050Lys
NM_017617.3:c.6150C>A	NP_060087.3:p.Asn2050Lys
XM_011518717.1:c.5451C>A	XP_011517019.1:p.Asn1817Lys
NM_017617.5:c.6150C>A MANE Select	NP_060087.3:p.Asn2050Lys
XM_011518717.2:c.5427C>A	XP_011517019.2:p.Asn1809Lys