Canonical Allele Identifier: CA467832419

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133318258
• MyVariant Identifiers: chr9:g.139391690G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497238G>C , CM000671.2:g.136497238G>C	GRCh38
NC_000009.11:g.139391690G>C , CM000671.1:g.139391690G>C	GRCh37
NC_000009.10:g.138511511G>C	NCBI36
NG_007458.1:g.53549C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6501C>G MANE Select	ENSP00000498587.1:p.Ala2167=
ENST00000679595.1:c.*1541C>G	ENSP00000506241.1:n.*1541C>G
ENST00000679969.1:n.3097C>G
ENST00000680003.1:n.2833C>G
ENST00000680133.1:c.6387C>G	ENSP00000505319.1:p.Ala2129=
ENST00000680218.1:c.6381C>G	ENSP00000505339.1:p.Ala2127=
ENST00000680668.1:c.6387C>G	ENSP00000506336.1:p.Ala2129=
ENST00000680778.1:c.4098C>G	ENSP00000506033.1:p.Ala1366=
ENST00000680924.1:c.*3901C>G	ENSP00000506031.1:n.*3901C>G
ENST00000681135.1:c.*4110C>G	ENSP00000506636.1:n.*4110C>G
ENST00000681298.1:n.4606C>G
ENST00000681454.1:c.*5737C>G	ENSP00000505763.1:n.*5737C>G
ENST00000277541.6:c.6501C>G	ENSP00000277541.6:p.Ala2167=
NM_017617.3:c.6501C>G	NP_060087.3:p.Ala2167=
XM_011518717.1:c.5802C>G	XP_011517019.1:p.Ala1934=
NM_017617.5:c.6501C>G MANE Select	NP_060087.3:p.Ala2167=
XM_011518717.2:c.5778C>G	XP_011517019.2:p.Ala1926=