Canonical Allele Identifier: CA375634120

Gene: NOTCH1

Linked Data

• MyVariant Identifiers: chr9:g.139393440C>G (hg19) ; chr9:g.136498988C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136498988C>G , CM000671.2:g.136498988C>G	GRCh38
NC_000009.11:g.139393440C>G , CM000671.1:g.139393440C>G	GRCh37
NC_000009.10:g.138513261C>G	NCBI36
NG_007458.1:g.51799G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6091G>C MANE Select	ENSP00000498587.1:p.Ala2031Pro
ENST00000679595.1:c.*1131G>C	ENSP00000506241.1:n.*1131G>C
ENST00000679969.1:n.2687G>C
ENST00000680003.1:n.2423G>C
ENST00000680133.1:c.5977G>C	ENSP00000505319.1:p.Ala1993Pro
ENST00000680218.1:c.5971G>C	ENSP00000505339.1:p.Ala1991Pro
ENST00000680668.1:c.5977G>C	ENSP00000506336.1:p.Ala1993Pro
ENST00000680778.1:c.3688G>C	ENSP00000506033.1:p.Ala1230Pro
ENST00000680924.1:c.*3491G>C	ENSP00000506031.1:n.*3491G>C
ENST00000681135.1:c.*3700G>C	ENSP00000506636.1:n.*3700G>C
ENST00000681298.1:n.4196G>C
ENST00000681454.1:c.*5327G>C	ENSP00000505763.1:n.*5327G>C
ENST00000277541.6:c.6091G>C	ENSP00000277541.6:p.Ala2031Pro
NM_017617.3:c.6091G>C	NP_060087.3:p.Ala2031Pro
XM_011518717.1:c.5392G>C	XP_011517019.1:p.Ala1798Pro
NM_017617.5:c.6091G>C MANE Select	NP_060087.3:p.Ala2031Pro
XM_011518717.2:c.5368G>C	XP_011517019.2:p.Ala1790Pro