Canonical Allele Identifier: CA375631638

Gene: NOTCH1

Linked Data

• dbSNP Id: rs1262995994
• MyVariant Identifiers: chr9:g.139391730T>A (hg19) ; chr9:g.136497278T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497278T>A , CM000671.2:g.136497278T>A	GRCh38
NC_000009.11:g.139391730T>A , CM000671.1:g.139391730T>A	GRCh37
NC_000009.10:g.138511551T>A	NCBI36
NG_007458.1:g.53509A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6461A>T MANE Select	ENSP00000498587.1:p.Gln2154Leu
ENST00000679595.1:c.*1501A>T	ENSP00000506241.1:n.*1501A>T
ENST00000679969.1:n.3057A>T
ENST00000680003.1:n.2793A>T
ENST00000680133.1:c.6347A>T	ENSP00000505319.1:p.Gln2116Leu
ENST00000680218.1:c.6341A>T	ENSP00000505339.1:p.Gln2114Leu
ENST00000680668.1:c.6347A>T	ENSP00000506336.1:p.Gln2116Leu
ENST00000680778.1:c.4058A>T	ENSP00000506033.1:p.Gln1353Leu
ENST00000680924.1:c.*3861A>T	ENSP00000506031.1:n.*3861A>T
ENST00000681135.1:c.*4070A>T	ENSP00000506636.1:n.*4070A>T
ENST00000681298.1:n.4566A>T
ENST00000681454.1:c.*5697A>T	ENSP00000505763.1:n.*5697A>T
ENST00000277541.6:c.6461A>T	ENSP00000277541.6:p.Gln2154Leu
NM_017617.3:c.6461A>T	NP_060087.3:p.Gln2154Leu
XM_011518717.1:c.5762A>T	XP_011517019.1:p.Gln1921Leu
NM_017617.5:c.6461A>T MANE Select	NP_060087.3:p.Gln2154Leu
XM_011518717.2:c.5738A>T	XP_011517019.2:p.Gln1913Leu