Canonical Allele Identifier: CA5340059

Gene: NOTCH1

Linked Data

• dbSNP Id: rs745335873
• ExAC: 9:139393601 G / C
• gnomAD v2: 9-139393601-G-C
• gnomAD v4: 9-136499149-G-C
• MyVariant Identifiers: chr9:g.139393601G>C (hg19) ; chr9:g.136499149G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136499149G>C , CM000671.2:g.136499149G>C	GRCh38
NC_000009.11:g.139393601G>C , CM000671.1:g.139393601G>C	GRCh37
NC_000009.10:g.138513422G>C	NCBI36
NG_007458.1:g.51638C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6045C>G MANE Select	ENSP00000498587.1:p.Ile2015Met
ENST00000679595.1:c.*1085C>G	ENSP00000506241.1:n.*1085C>G
ENST00000679969.1:n.2526C>G
ENST00000680003.1:n.2377C>G
ENST00000680133.1:c.5931C>G	ENSP00000505319.1:p.Ile1977Met
ENST00000680218.1:c.5925C>G	ENSP00000505339.1:p.Ile1975Met
ENST00000680668.1:c.5931C>G	ENSP00000506336.1:p.Ile1977Met
ENST00000680778.1:c.3642C>G	ENSP00000506033.1:p.Ile1214Met
ENST00000680924.1:c.*3445C>G	ENSP00000506031.1:n.*3445C>G
ENST00000681135.1:c.*3654C>G	ENSP00000506636.1:n.*3654C>G
ENST00000681298.1:n.4150C>G
ENST00000681454.1:c.*5281C>G	ENSP00000505763.1:n.*5281C>G
ENST00000277541.6:c.6045C>G	ENSP00000277541.6:p.Ile2015Met
NM_017617.3:c.6045C>G	NP_060087.3:p.Ile2015Met
XM_011518717.1:c.5346C>G	XP_011517019.1:p.Ile1782Met
NM_017617.5:c.6045C>G MANE Select	NP_060087.3:p.Ile2015Met
XM_011518717.2:c.5322C>G	XP_011517019.2:p.Ile1774Met