Canonical Allele Identifier: CA2786273013

Gene: NOTCH1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504656C>G , CM000671.2:g.136504656C>G	GRCh38
NC_000009.11:g.139399108C>G , CM000671.1:g.139399108C>G	GRCh37
NC_000009.10:g.138518929C>G	NCBI36
NG_007458.1:g.46131G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2825+17G>C
ENST00000651671.1:c.5018+17G>C MANE Select	ENSP00000498587.1:n.5018+17G>C
ENST00000679595.1:c.5018+17G>C	ENSP00000506241.1:n.5018+17G>C
ENST00000680133.1:c.4904+17G>C	ENSP00000505319.1:n.4904+17G>C
ENST00000680218.1:c.4898+17G>C	ENSP00000505339.1:n.4898+17G>C
ENST00000680668.1:c.4904+17G>C	ENSP00000506336.1:n.4904+17G>C
ENST00000680778.1:c.2615+17G>C	ENSP00000506033.1:n.2615+17G>C
ENST00000680924.1:c.*2418+17G>C	ENSP00000506031.1:n.*2418+17G>C
ENST00000681135.1:c.*2627+17G>C	ENSP00000506636.1:n.*2627+17G>C
ENST00000681298.1:n.1831+17G>C
ENST00000681454.1:c.*4254+17G>C	ENSP00000505763.1:n.*4254+17G>C
ENST00000277541.6:c.5018+17G>C	ENSP00000277541.6:n.5018+17G>C
ENST00000494783.1:n.173+17G>C
NM_017617.3:c.5018+17G>C	NP_060087.3:n.5018+17G>C
XM_011518717.1:c.4319+17G>C	XP_011517019.1:n.4319+17G>C
NM_017617.5:c.5018+17G>C MANE Select	NP_060087.3:n.5018+17G>C
XM_011518717.2:c.4295+17G>C	XP_011517019.2:n.4295+17G>C