Canonical Allele Identifier: CA375634241

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133322510
• MyVariant Identifiers: chr9:g.139393570C>G (hg19) ; chr9:g.136499118C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136499118C>G , CM000671.2:g.136499118C>G	GRCh38
NC_000009.11:g.139393570C>G , CM000671.1:g.139393570C>G	GRCh37
NC_000009.10:g.138513391C>G	NCBI36
NG_007458.1:g.51669G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6076G>C MANE Select	ENSP00000498587.1:p.Asp2026His
ENST00000679595.1:c.*1116G>C	ENSP00000506241.1:n.*1116G>C
ENST00000679969.1:n.2557G>C
ENST00000680003.1:n.2408G>C
ENST00000680133.1:c.5962G>C	ENSP00000505319.1:p.Asp1988His
ENST00000680218.1:c.5956G>C	ENSP00000505339.1:p.Asp1986His
ENST00000680668.1:c.5962G>C	ENSP00000506336.1:p.Asp1988His
ENST00000680778.1:c.3673G>C	ENSP00000506033.1:p.Asp1225His
ENST00000680924.1:c.*3476G>C	ENSP00000506031.1:n.*3476G>C
ENST00000681135.1:c.*3685G>C	ENSP00000506636.1:n.*3685G>C
ENST00000681298.1:n.4181G>C
ENST00000681454.1:c.*5312G>C	ENSP00000505763.1:n.*5312G>C
ENST00000277541.6:c.6076G>C	ENSP00000277541.6:p.Asp2026His
NM_017617.3:c.6076G>C	NP_060087.3:p.Asp2026His
XM_011518717.1:c.5377G>C	XP_011517019.1:p.Asp1793His
NM_017617.5:c.6076G>C MANE Select	NP_060087.3:p.Asp2026His
XM_011518717.2:c.5353G>C	XP_011517019.2:p.Asp1785His