Canonical Allele Identifier: CA375644813

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133336558
• gnomAD v4: 9-136504866-C-A
• MyVariant Identifiers: chr9:g.139399318C>A (hg19) ; chr9:g.136504866C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504866C>A , CM000671.2:g.136504866C>A	GRCh38
NC_000009.11:g.139399318C>A , CM000671.1:g.139399318C>A	GRCh37
NC_000009.10:g.138519139C>A	NCBI36
NG_007458.1:g.45921G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2632G>T
ENST00000651671.1:c.4825G>T MANE Select	ENSP00000498587.1:p.Asp1609Tyr
ENST00000679595.1:c.4825G>T	ENSP00000506241.1:p.Asp1609Tyr
ENST00000680133.1:c.4711G>T	ENSP00000505319.1:p.Asp1571Tyr
ENST00000680218.1:c.4705G>T	ENSP00000505339.1:p.Asp1569Tyr
ENST00000680668.1:c.4711G>T	ENSP00000506336.1:p.Asp1571Tyr
ENST00000680778.1:c.2422G>T	ENSP00000506033.1:p.Asp808Tyr
ENST00000680924.1:c.*2225G>T	ENSP00000506031.1:n.*2225G>T
ENST00000681135.1:c.*2434G>T	ENSP00000506636.1:n.*2434G>T
ENST00000681298.1:n.1638G>T
ENST00000681454.1:c.*4061G>T	ENSP00000505763.1:n.*4061G>T
ENST00000277541.6:c.4825G>T	ENSP00000277541.6:p.Asp1609Tyr
NM_017617.3:c.4825G>T	NP_060087.3:p.Asp1609Tyr
XM_011518717.1:c.4126G>T	XP_011517019.1:p.Asp1376Tyr
NM_017617.5:c.4825G>T MANE Select	NP_060087.3:p.Asp1609Tyr
XM_011518717.2:c.4102G>T	XP_011517019.2:p.Asp1368Tyr