Canonical Allele Identifier: CA467737929

Gene: NOTCH1

Linked Data

• MyVariant Identifiers: chr9:g.139393375A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136498923A>C , CM000671.2:g.136498923A>C	GRCh38
NC_000009.11:g.139393375A>C , CM000671.1:g.139393375A>C	GRCh37
NC_000009.10:g.138513196A>C	NCBI36
NG_007458.1:g.51864T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6156T>G MANE Select	ENSP00000498587.1:p.Ala2052=
ENST00000679595.1:c.*1196T>G	ENSP00000506241.1:n.*1196T>G
ENST00000679969.1:n.2752T>G
ENST00000680003.1:n.2488T>G
ENST00000680133.1:c.6042T>G	ENSP00000505319.1:p.Ala2014=
ENST00000680218.1:c.6036T>G	ENSP00000505339.1:p.Ala2012=
ENST00000680668.1:c.6042T>G	ENSP00000506336.1:p.Ala2014=
ENST00000680778.1:c.3753T>G	ENSP00000506033.1:p.Ala1251=
ENST00000680924.1:c.*3556T>G	ENSP00000506031.1:n.*3556T>G
ENST00000681135.1:c.*3765T>G	ENSP00000506636.1:n.*3765T>G
ENST00000681298.1:n.4261T>G
ENST00000681454.1:c.*5392T>G	ENSP00000505763.1:n.*5392T>G
ENST00000277541.6:c.6156T>G	ENSP00000277541.6:p.Ala2052=
NM_017617.3:c.6156T>G	NP_060087.3:p.Ala2052=
XM_011518717.1:c.5457T>G	XP_011517019.1:p.Ala1819=
NM_017617.5:c.6156T>G MANE Select	NP_060087.3:p.Ala2052=
XM_011518717.2:c.5433T>G	XP_011517019.2:p.Ala1811=