Canonical Allele Identifier: CA375645975

Gene: NOTCH1

Linked Data

• dbSNP Id: rs1564190652
• gnomAD v4: 9-136505081-T-G
• MyVariant Identifiers: chr9:g.139399533T>G (hg19) ; chr9:g.136505081T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136505081T>G , CM000671.2:g.136505081T>G	GRCh38
NC_000009.11:g.139399533T>G , CM000671.1:g.139399533T>G	GRCh37
NC_000009.10:g.138519354T>G	NCBI36
NG_007458.1:g.45706A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2417A>C
ENST00000651671.1:c.4610A>C MANE Select	ENSP00000498587.1:p.Lys1537Thr
ENST00000679595.1:c.4610A>C	ENSP00000506241.1:p.Lys1537Thr
ENST00000680133.1:c.4496A>C	ENSP00000505319.1:p.Lys1499Thr
ENST00000680218.1:c.4490A>C	ENSP00000505339.1:p.Lys1497Thr
ENST00000680668.1:c.4496A>C	ENSP00000506336.1:p.Lys1499Thr
ENST00000680778.1:c.2207A>C	ENSP00000506033.1:p.Lys736Thr
ENST00000680924.1:c.*2010A>C	ENSP00000506031.1:n.*2010A>C
ENST00000681135.1:c.*2219A>C	ENSP00000506636.1:n.*2219A>C
ENST00000681298.1:n.1423A>C
ENST00000681454.1:c.*3846A>C	ENSP00000505763.1:n.*3846A>C
ENST00000277541.6:c.4610A>C	ENSP00000277541.6:p.Lys1537Thr
NM_017617.3:c.4610A>C	NP_060087.3:p.Lys1537Thr
XM_011518717.1:c.3911A>C	XP_011517019.1:p.Lys1304Thr
NM_017617.5:c.4610A>C MANE Select	NP_060087.3:p.Lys1537Thr
XM_011518717.2:c.3887A>C	XP_011517019.2:p.Lys1296Thr