Canonical Allele Identifier: CA375644786

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133336514
• gnomAD v4: 9-136504860-G-A
• MyVariant Identifiers: chr9:g.139399312G>A (hg19) ; chr9:g.136504860G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504860G>A , CM000671.2:g.136504860G>A	GRCh38
NC_000009.11:g.139399312G>A , CM000671.1:g.139399312G>A	GRCh37
NC_000009.10:g.138519133G>A	NCBI36
NG_007458.1:g.45927C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2638C>T
ENST00000651671.1:c.4831C>T MANE Select	ENSP00000498587.1:p.His1611Tyr
ENST00000679595.1:c.4831C>T	ENSP00000506241.1:p.His1611Tyr
ENST00000680133.1:c.4717C>T	ENSP00000505319.1:p.His1573Tyr
ENST00000680218.1:c.4711C>T	ENSP00000505339.1:p.His1571Tyr
ENST00000680668.1:c.4717C>T	ENSP00000506336.1:p.His1573Tyr
ENST00000680778.1:c.2428C>T	ENSP00000506033.1:p.His810Tyr
ENST00000680924.1:c.*2231C>T	ENSP00000506031.1:n.*2231C>T
ENST00000681135.1:c.*2440C>T	ENSP00000506636.1:n.*2440C>T
ENST00000681298.1:n.1644C>T
ENST00000681454.1:c.*4067C>T	ENSP00000505763.1:n.*4067C>T
ENST00000277541.6:c.4831C>T	ENSP00000277541.6:p.His1611Tyr
NM_017617.3:c.4831C>T	NP_060087.3:p.His1611Tyr
XM_011518717.1:c.4132C>T	XP_011517019.1:p.His1378Tyr
NM_017617.5:c.4831C>T MANE Select	NP_060087.3:p.His1611Tyr
XM_011518717.2:c.4108C>T	XP_011517019.2:p.His1370Tyr