Canonical Allele Identifier: CA375631481

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133318262
• MyVariant Identifiers: chr9:g.139391691G>A (hg19) ; chr9:g.136497239G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497239G>A , CM000671.2:g.136497239G>A	GRCh38
NC_000009.11:g.139391691G>A , CM000671.1:g.139391691G>A	GRCh37
NC_000009.10:g.138511512G>A	NCBI36
NG_007458.1:g.53548C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6500C>T MANE Select	ENSP00000498587.1:p.Ala2167Val
ENST00000679595.1:c.*1540C>T	ENSP00000506241.1:n.*1540C>T
ENST00000679969.1:n.3096C>T
ENST00000680003.1:n.2832C>T
ENST00000680133.1:c.6386C>T	ENSP00000505319.1:p.Ala2129Val
ENST00000680218.1:c.6380C>T	ENSP00000505339.1:p.Ala2127Val
ENST00000680668.1:c.6386C>T	ENSP00000506336.1:p.Ala2129Val
ENST00000680778.1:c.4097C>T	ENSP00000506033.1:p.Ala1366Val
ENST00000680924.1:c.*3900C>T	ENSP00000506031.1:n.*3900C>T
ENST00000681135.1:c.*4109C>T	ENSP00000506636.1:n.*4109C>T
ENST00000681298.1:n.4605C>T
ENST00000681454.1:c.*5736C>T	ENSP00000505763.1:n.*5736C>T
ENST00000277541.6:c.6500C>T	ENSP00000277541.6:p.Ala2167Val
NM_017617.3:c.6500C>T	NP_060087.3:p.Ala2167Val
XM_011518717.1:c.5801C>T	XP_011517019.1:p.Ala1934Val
NM_017617.5:c.6500C>T MANE Select	NP_060087.3:p.Ala2167Val
XM_011518717.2:c.5777C>T	XP_011517019.2:p.Ala1926Val