Canonical Allele Identifier: CA375631812

Gene: NOTCH1

Linked Data

• dbSNP Id: rs756571156
• MyVariant Identifiers: chr9:g.139391778G>C (hg19) ; chr9:g.136497326G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497326G>C , CM000671.2:g.136497326G>C	GRCh38
NC_000009.11:g.139391778G>C , CM000671.1:g.139391778G>C	GRCh37
NC_000009.10:g.138511599G>C	NCBI36
NG_007458.1:g.53461C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6413C>G MANE Select	ENSP00000498587.1:p.Pro2138Arg
ENST00000679595.1:c.*1453C>G	ENSP00000506241.1:n.*1453C>G
ENST00000679969.1:n.3009C>G
ENST00000680003.1:n.2745C>G
ENST00000680133.1:c.6299C>G	ENSP00000505319.1:p.Pro2100Arg
ENST00000680218.1:c.6293C>G	ENSP00000505339.1:p.Pro2098Arg
ENST00000680668.1:c.6299C>G	ENSP00000506336.1:p.Pro2100Arg
ENST00000680778.1:c.4010C>G	ENSP00000506033.1:p.Pro1337Arg
ENST00000680924.1:c.*3813C>G	ENSP00000506031.1:n.*3813C>G
ENST00000681135.1:c.*4022C>G	ENSP00000506636.1:n.*4022C>G
ENST00000681298.1:n.4518C>G
ENST00000681454.1:c.*5649C>G	ENSP00000505763.1:n.*5649C>G
ENST00000277541.6:c.6413C>G	ENSP00000277541.6:p.Pro2138Arg
NM_017617.3:c.6413C>G	NP_060087.3:p.Pro2138Arg
XM_011518717.1:c.5714C>G	XP_011517019.1:p.Pro1905Arg
NM_017617.5:c.6413C>G MANE Select	NP_060087.3:p.Pro2138Arg
XM_011518717.2:c.5690C>G	XP_011517019.2:p.Pro1897Arg