Canonical Allele Identifier: CA375631499

Gene: NOTCH1

Linked Data

• dbSNP Id: rs764255955
• gnomAD v4: 9-136497245-C-A
• COSMIC: COSM4772165 ; COSM4772166
• MyVariant Identifiers: chr9:g.139391697C>A (hg19) ; chr9:g.136497245C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497245C>A , CM000671.2:g.136497245C>A	GRCh38
NC_000009.11:g.139391697C>A , CM000671.1:g.139391697C>A	GRCh37
NC_000009.10:g.138511518C>A	NCBI36
NG_007458.1:g.53542G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6494G>T MANE Select	ENSP00000498587.1:p.Gly2165Val
ENST00000679595.1:c.*1534G>T	ENSP00000506241.1:n.*1534G>T
ENST00000679969.1:n.3090G>T
ENST00000680003.1:n.2826G>T
ENST00000680133.1:c.6380G>T	ENSP00000505319.1:p.Gly2127Val
ENST00000680218.1:c.6374G>T	ENSP00000505339.1:p.Gly2125Val
ENST00000680668.1:c.6380G>T	ENSP00000506336.1:p.Gly2127Val
ENST00000680778.1:c.4091G>T	ENSP00000506033.1:p.Gly1364Val
ENST00000680924.1:c.*3894G>T	ENSP00000506031.1:n.*3894G>T
ENST00000681135.1:c.*4103G>T	ENSP00000506636.1:n.*4103G>T
ENST00000681298.1:n.4599G>T
ENST00000681454.1:c.*5730G>T	ENSP00000505763.1:n.*5730G>T
ENST00000277541.6:c.6494G>T	ENSP00000277541.6:p.Gly2165Val
NM_017617.3:c.6494G>T	NP_060087.3:p.Gly2165Val
XM_011518717.1:c.5795G>T	XP_011517019.1:p.Gly1932Val
NM_017617.5:c.6494G>T MANE Select	NP_060087.3:p.Gly2165Val
XM_011518717.2:c.5771G>T	XP_011517019.2:p.Gly1924Val