Canonical Allele Identifier: CA375631452

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133318222
• MyVariant Identifiers: chr9:g.139391678C>A (hg19) ; chr9:g.136497226C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497226C>A , CM000671.2:g.136497226C>A	GRCh38
NC_000009.11:g.139391678C>A , CM000671.1:g.139391678C>A	GRCh37
NC_000009.10:g.138511499C>A	NCBI36
NG_007458.1:g.53561G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6513G>T MANE Select	ENSP00000498587.1:p.Lys2171Asn
ENST00000679595.1:c.*1553G>T	ENSP00000506241.1:n.*1553G>T
ENST00000679969.1:n.3109G>T
ENST00000680003.1:n.2845G>T
ENST00000680133.1:c.6399G>T	ENSP00000505319.1:p.Lys2133Asn
ENST00000680218.1:c.6393G>T	ENSP00000505339.1:p.Lys2131Asn
ENST00000680668.1:c.6399G>T	ENSP00000506336.1:p.Lys2133Asn
ENST00000680778.1:c.4110G>T	ENSP00000506033.1:p.Lys1370Asn
ENST00000680924.1:c.*3913G>T	ENSP00000506031.1:n.*3913G>T
ENST00000681135.1:c.*4122G>T	ENSP00000506636.1:n.*4122G>T
ENST00000681298.1:n.4618G>T
ENST00000681454.1:c.*5749G>T	ENSP00000505763.1:n.*5749G>T
ENST00000277541.6:c.6513G>T	ENSP00000277541.6:p.Lys2171Asn
NM_017617.3:c.6513G>T	NP_060087.3:p.Lys2171Asn
XM_011518717.1:c.5814G>T	XP_011517019.1:p.Lys1938Asn
NM_017617.5:c.6513G>T MANE Select	NP_060087.3:p.Lys2171Asn
XM_011518717.2:c.5790G>T	XP_011517019.2:p.Lys1930Asn