Canonical Allele Identifier: CA375631221

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133317952
• MyVariant Identifiers: chr9:g.139391622A>C (hg19) ; chr9:g.136497170A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497170A>C , CM000671.2:g.136497170A>C	GRCh38
NC_000009.11:g.139391622A>C , CM000671.1:g.139391622A>C	GRCh37
NC_000009.10:g.138511443A>C	NCBI36
NG_007458.1:g.53617T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6569T>G MANE Select	ENSP00000498587.1:p.Leu2190Arg
ENST00000679595.1:c.*1609T>G	ENSP00000506241.1:n.*1609T>G
ENST00000679969.1:n.3165T>G
ENST00000680003.1:n.2901T>G
ENST00000680133.1:c.6455T>G	ENSP00000505319.1:p.Leu2152Arg
ENST00000680218.1:c.6449T>G	ENSP00000505339.1:p.Leu2150Arg
ENST00000680668.1:c.6455T>G	ENSP00000506336.1:p.Leu2152Arg
ENST00000680778.1:c.4166T>G	ENSP00000506033.1:p.Leu1389Arg
ENST00000680924.1:c.*3969T>G	ENSP00000506031.1:n.*3969T>G
ENST00000681135.1:c.*4178T>G	ENSP00000506636.1:n.*4178T>G
ENST00000681298.1:n.4674T>G
ENST00000681454.1:c.*5805T>G	ENSP00000505763.1:n.*5805T>G
ENST00000277541.6:c.6569T>G	ENSP00000277541.6:p.Leu2190Arg
NM_017617.3:c.6569T>G	NP_060087.3:p.Leu2190Arg
XM_011518717.1:c.5870T>G	XP_011517019.1:p.Leu1957Arg
NM_017617.5:c.6569T>G MANE Select	NP_060087.3:p.Leu2190Arg
XM_011518717.2:c.5846T>G	XP_011517019.2:p.Leu1949Arg