Canonical Allele Identifier: CA375631854

Gene: NOTCH1

Linked Data

• dbSNP Id: rs1842933568
• MyVariant Identifiers: chr9:g.139391802C>G (hg19) ; chr9:g.136497350C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497350C>G , CM000671.2:g.136497350C>G	GRCh38
NC_000009.11:g.139391802C>G , CM000671.1:g.139391802C>G	GRCh37
NC_000009.10:g.138511623C>G	NCBI36
NG_007458.1:g.53437G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6389G>C MANE Select	ENSP00000498587.1:p.Gly2130Ala
ENST00000679595.1:c.*1429G>C	ENSP00000506241.1:n.*1429G>C
ENST00000679969.1:n.2985G>C
ENST00000680003.1:n.2721G>C
ENST00000680133.1:c.6275G>C	ENSP00000505319.1:p.Gly2092Ala
ENST00000680218.1:c.6269G>C	ENSP00000505339.1:p.Gly2090Ala
ENST00000680668.1:c.6275G>C	ENSP00000506336.1:p.Gly2092Ala
ENST00000680778.1:c.3986G>C	ENSP00000506033.1:p.Gly1329Ala
ENST00000680924.1:c.*3789G>C	ENSP00000506031.1:n.*3789G>C
ENST00000681135.1:c.*3998G>C	ENSP00000506636.1:n.*3998G>C
ENST00000681298.1:n.4494G>C
ENST00000681454.1:c.*5625G>C	ENSP00000505763.1:n.*5625G>C
ENST00000277541.6:c.6389G>C	ENSP00000277541.6:p.Gly2130Ala
NM_017617.3:c.6389G>C	NP_060087.3:p.Gly2130Ala
XM_011518717.1:c.5690G>C	XP_011517019.1:p.Gly1897Ala
NM_017617.5:c.6389G>C MANE Select	NP_060087.3:p.Gly2130Ala
XM_011518717.2:c.5666G>C	XP_011517019.2:p.Gly1889Ala