Canonical Allele Identifier: CA375634395

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133322732
• gnomAD v4: 9-136499155-G-C
• MyVariant Identifiers: chr9:g.139393607G>C (hg19) ; chr9:g.136499155G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136499155G>C , CM000671.2:g.136499155G>C	GRCh38
NC_000009.11:g.139393607G>C , CM000671.1:g.139393607G>C	GRCh37
NC_000009.10:g.138513428G>C	NCBI36
NG_007458.1:g.51632C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6039C>G MANE Select	ENSP00000498587.1:p.Asp2013Glu
ENST00000679595.1:c.*1079C>G	ENSP00000506241.1:n.*1079C>G
ENST00000679969.1:n.2520C>G
ENST00000680003.1:n.2371C>G
ENST00000680133.1:c.5925C>G	ENSP00000505319.1:p.Asp1975Glu
ENST00000680218.1:c.5919C>G	ENSP00000505339.1:p.Asp1973Glu
ENST00000680668.1:c.5925C>G	ENSP00000506336.1:p.Asp1975Glu
ENST00000680778.1:c.3636C>G	ENSP00000506033.1:p.Asp1212Glu
ENST00000680924.1:c.*3439C>G	ENSP00000506031.1:n.*3439C>G
ENST00000681135.1:c.*3648C>G	ENSP00000506636.1:n.*3648C>G
ENST00000681298.1:n.4144C>G
ENST00000681454.1:c.*5275C>G	ENSP00000505763.1:n.*5275C>G
ENST00000277541.6:c.6039C>G	ENSP00000277541.6:p.Asp2013Glu
NM_017617.3:c.6039C>G	NP_060087.3:p.Asp2013Glu
XM_011518717.1:c.5340C>G	XP_011517019.1:p.Asp1780Glu
NM_017617.5:c.6039C>G MANE Select	NP_060087.3:p.Asp2013Glu
XM_011518717.2:c.5316C>G	XP_011517019.2:p.Asp1772Glu