Canonical Allele Identifier: CA375631151

Gene: NOTCH1

Linked Data

• MyVariant Identifiers: chr9:g.139391603C>G (hg19) ; chr9:g.136497151C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497151C>G , CM000671.2:g.136497151C>G	GRCh38
NC_000009.11:g.139391603C>G , CM000671.1:g.139391603C>G	GRCh37
NC_000009.10:g.138511424C>G	NCBI36
NG_007458.1:g.53636G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6588G>C MANE Select	ENSP00000498587.1:p.Met2196Ile
ENST00000679595.1:c.*1628G>C	ENSP00000506241.1:n.*1628G>C
ENST00000679969.1:n.3184G>C
ENST00000680003.1:n.2920G>C
ENST00000680133.1:c.6474G>C	ENSP00000505319.1:p.Met2158Ile
ENST00000680218.1:c.6468G>C	ENSP00000505339.1:p.Met2156Ile
ENST00000680668.1:c.6474G>C	ENSP00000506336.1:p.Met2158Ile
ENST00000680778.1:c.4185G>C	ENSP00000506033.1:p.Met1395Ile
ENST00000680924.1:c.*3988G>C	ENSP00000506031.1:n.*3988G>C
ENST00000681135.1:c.*4197G>C	ENSP00000506636.1:n.*4197G>C
ENST00000681298.1:n.4693G>C
ENST00000681454.1:c.*5824G>C	ENSP00000505763.1:n.*5824G>C
ENST00000277541.6:c.6588G>C	ENSP00000277541.6:p.Met2196Ile
NM_017617.3:c.6588G>C	NP_060087.3:p.Met2196Ile
XM_011518717.1:c.5889G>C	XP_011517019.1:p.Met1963Ile
NM_017617.5:c.6588G>C MANE Select	NP_060087.3:p.Met2196Ile
XM_011518717.2:c.5865G>C	XP_011517019.2:p.Met1955Ile