Canonical Allele Identifier: CA375644237

Gene: NOTCH1

Linked Data

• dbSNP Id: rs1843050279
• MyVariant Identifiers: chr9:g.139399186G>C (hg19) ; chr9:g.136504734G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504734G>C , CM000671.2:g.136504734G>C	GRCh38
NC_000009.11:g.139399186G>C , CM000671.1:g.139399186G>C	GRCh37
NC_000009.10:g.138519007G>C	NCBI36
NG_007458.1:g.46053C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2764C>G
ENST00000651671.1:c.4957C>G MANE Select	ENSP00000498587.1:p.Leu1653Val
ENST00000679595.1:c.4957C>G	ENSP00000506241.1:p.Leu1653Val
ENST00000680133.1:c.4843C>G	ENSP00000505319.1:p.Leu1615Val
ENST00000680218.1:c.4837C>G	ENSP00000505339.1:p.Leu1613Val
ENST00000680668.1:c.4843C>G	ENSP00000506336.1:p.Leu1615Val
ENST00000680778.1:c.2554C>G	ENSP00000506033.1:p.Leu852Val
ENST00000680924.1:c.*2357C>G	ENSP00000506031.1:n.*2357C>G
ENST00000681135.1:c.*2566C>G	ENSP00000506636.1:n.*2566C>G
ENST00000681298.1:n.1770C>G
ENST00000681454.1:c.*4193C>G	ENSP00000505763.1:n.*4193C>G
ENST00000277541.6:c.4957C>G	ENSP00000277541.6:p.Leu1653Val
ENST00000494783.1:n.112C>G
NM_017617.3:c.4957C>G	NP_060087.3:p.Leu1653Val
XM_011518717.1:c.4258C>G	XP_011517019.1:p.Leu1420Val
NM_017617.5:c.4957C>G MANE Select	NP_060087.3:p.Leu1653Val
XM_011518717.2:c.4234C>G	XP_011517019.2:p.Leu1412Val