Canonical Allele Identifier: CA5340060

Gene: NOTCH1

Linked Data

• dbSNP Id: rs769436618
• ExAC: 9:139393603 T / C
• gnomAD v2: 9-139393603-T-C
• gnomAD v4: 9-136499151-T-C
• MyVariant Identifiers: chr9:g.139393603T>C (hg19) ; chr9:g.136499151T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136499151T>C , CM000671.2:g.136499151T>C	GRCh38
NC_000009.11:g.139393603T>C , CM000671.1:g.139393603T>C	GRCh37
NC_000009.10:g.138513424T>C	NCBI36
NG_007458.1:g.51636A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6043A>G MANE Select	ENSP00000498587.1:p.Ile2015Val
ENST00000679595.1:c.*1083A>G	ENSP00000506241.1:n.*1083A>G
ENST00000679969.1:n.2524A>G
ENST00000680003.1:n.2375A>G
ENST00000680133.1:c.5929A>G	ENSP00000505319.1:p.Ile1977Val
ENST00000680218.1:c.5923A>G	ENSP00000505339.1:p.Ile1975Val
ENST00000680668.1:c.5929A>G	ENSP00000506336.1:p.Ile1977Val
ENST00000680778.1:c.3640A>G	ENSP00000506033.1:p.Ile1214Val
ENST00000680924.1:c.*3443A>G	ENSP00000506031.1:n.*3443A>G
ENST00000681135.1:c.*3652A>G	ENSP00000506636.1:n.*3652A>G
ENST00000681298.1:n.4148A>G
ENST00000681454.1:c.*5279A>G	ENSP00000505763.1:n.*5279A>G
ENST00000277541.6:c.6043A>G	ENSP00000277541.6:p.Ile2015Val
NM_017617.3:c.6043A>G	NP_060087.3:p.Ile2015Val
XM_011518717.1:c.5344A>G	XP_011517019.1:p.Ile1782Val
NM_017617.5:c.6043A>G MANE Select	NP_060087.3:p.Ile2015Val
XM_011518717.2:c.5320A>G	XP_011517019.2:p.Ile1774Val