Canonical Allele Identifier: CA467832672

Gene: NOTCH1

Linked Data

• MyVariant Identifiers: chr9:g.139391837C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497385C>G , CM000671.2:g.136497385C>G	GRCh38
NC_000009.11:g.139391837C>G , CM000671.1:g.139391837C>G	GRCh37
NC_000009.10:g.138511658C>G	NCBI36
NG_007458.1:g.53402G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6354G>C MANE Select	ENSP00000498587.1:p.Leu2118=
ENST00000679595.1:c.*1394G>C	ENSP00000506241.1:n.*1394G>C
ENST00000679969.1:n.2950G>C
ENST00000680003.1:n.2686G>C
ENST00000680133.1:c.6240G>C	ENSP00000505319.1:p.Leu2080=
ENST00000680218.1:c.6234G>C	ENSP00000505339.1:p.Leu2078=
ENST00000680668.1:c.6240G>C	ENSP00000506336.1:p.Leu2080=
ENST00000680778.1:c.3951G>C	ENSP00000506033.1:p.Leu1317=
ENST00000680924.1:c.*3754G>C	ENSP00000506031.1:n.*3754G>C
ENST00000681135.1:c.*3963G>C	ENSP00000506636.1:n.*3963G>C
ENST00000681298.1:n.4459G>C
ENST00000681454.1:c.*5590G>C	ENSP00000505763.1:n.*5590G>C
ENST00000277541.6:c.6354G>C	ENSP00000277541.6:p.Leu2118=
NM_017617.3:c.6354G>C	NP_060087.3:p.Leu2118=
XM_011518717.1:c.5655G>C	XP_011517019.1:p.Leu1885=
NM_017617.5:c.6354G>C MANE Select	NP_060087.3:p.Leu2118=
XM_011518717.2:c.5631G>C	XP_011517019.2:p.Leu1877=