Canonical Allele Identifier: CA375631706

Gene: NOTCH1

Linked Data

• dbSNP Id: rs1564568603
• MyVariant Identifiers: chr9:g.139391748C>A (hg19) ; chr9:g.136497296C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497296C>A , CM000671.2:g.136497296C>A	GRCh38
NC_000009.11:g.139391748C>A , CM000671.1:g.139391748C>A	GRCh37
NC_000009.10:g.138511569C>A	NCBI36
NG_007458.1:g.53491G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6443G>T MANE Select	ENSP00000498587.1:p.Ser2148Ile
ENST00000679595.1:c.*1483G>T	ENSP00000506241.1:n.*1483G>T
ENST00000679969.1:n.3039G>T
ENST00000680003.1:n.2775G>T
ENST00000680133.1:c.6329G>T	ENSP00000505319.1:p.Ser2110Ile
ENST00000680218.1:c.6323G>T	ENSP00000505339.1:p.Ser2108Ile
ENST00000680668.1:c.6329G>T	ENSP00000506336.1:p.Ser2110Ile
ENST00000680778.1:c.4040G>T	ENSP00000506033.1:p.Ser1347Ile
ENST00000680924.1:c.*3843G>T	ENSP00000506031.1:n.*3843G>T
ENST00000681135.1:c.*4052G>T	ENSP00000506636.1:n.*4052G>T
ENST00000681298.1:n.4548G>T
ENST00000681454.1:c.*5679G>T	ENSP00000505763.1:n.*5679G>T
ENST00000277541.6:c.6443G>T	ENSP00000277541.6:p.Ser2148Ile
NM_017617.3:c.6443G>T	NP_060087.3:p.Ser2148Ile
XM_011518717.1:c.5744G>T	XP_011517019.1:p.Ser1915Ile
NM_017617.5:c.6443G>T MANE Select	NP_060087.3:p.Ser2148Ile
XM_011518717.2:c.5720G>T	XP_011517019.2:p.Ser1907Ile