Canonical Allele Identifier: CA375631830

Gene: NOTCH1

Linked Data

• MyVariant Identifiers: chr9:g.139391788G>C (hg19) ; chr9:g.136497336G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497336G>C , CM000671.2:g.136497336G>C	GRCh38
NC_000009.11:g.139391788G>C , CM000671.1:g.139391788G>C	GRCh37
NC_000009.10:g.138511609G>C	NCBI36
NG_007458.1:g.53451C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6403C>G MANE Select	ENSP00000498587.1:p.Leu2135Val
ENST00000679595.1:c.*1443C>G	ENSP00000506241.1:n.*1443C>G
ENST00000679969.1:n.2999C>G
ENST00000680003.1:n.2735C>G
ENST00000680133.1:c.6289C>G	ENSP00000505319.1:p.Leu2097Val
ENST00000680218.1:c.6283C>G	ENSP00000505339.1:p.Leu2095Val
ENST00000680668.1:c.6289C>G	ENSP00000506336.1:p.Leu2097Val
ENST00000680778.1:c.4000C>G	ENSP00000506033.1:p.Leu1334Val
ENST00000680924.1:c.*3803C>G	ENSP00000506031.1:n.*3803C>G
ENST00000681135.1:c.*4012C>G	ENSP00000506636.1:n.*4012C>G
ENST00000681298.1:n.4508C>G
ENST00000681454.1:c.*5639C>G	ENSP00000505763.1:n.*5639C>G
ENST00000277541.6:c.6403C>G	ENSP00000277541.6:p.Leu2135Val
NM_017617.3:c.6403C>G	NP_060087.3:p.Leu2135Val
XM_011518717.1:c.5704C>G	XP_011517019.1:p.Leu1902Val
NM_017617.5:c.6403C>G MANE Select	NP_060087.3:p.Leu2135Val
XM_011518717.2:c.5680C>G	XP_011517019.2:p.Leu1894Val