Canonical Allele Identifier: CA16612723

Gene: NOTCH1

Linked Data

• ClinVar Variation Id: 415419
• ClinVar RCV Id: RCV001413480
• dbSNP Id: rs1060504525
• MyVariant Identifiers: chr9:g.139393437G>A (hg19) ; chr9:g.136498985G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136498985G>A , CM000671.2:g.136498985G>A	GRCh38
NC_000009.11:g.139393437G>A , CM000671.1:g.139393437G>A	GRCh37
NC_000009.10:g.138513258G>A	NCBI36
NG_007458.1:g.51802C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6094C>T MANE Select	ENSP00000498587.1:p.Leu2032=
ENST00000679595.1:c.*1134C>T	ENSP00000506241.1:n.*1134C>T
ENST00000679969.1:n.2690C>T
ENST00000680003.1:n.2426C>T
ENST00000680133.1:c.5980C>T	ENSP00000505319.1:p.Leu1994=
ENST00000680218.1:c.5974C>T	ENSP00000505339.1:p.Leu1992=
ENST00000680668.1:c.5980C>T	ENSP00000506336.1:p.Leu1994=
ENST00000680778.1:c.3691C>T	ENSP00000506033.1:p.Leu1231=
ENST00000680924.1:c.*3494C>T	ENSP00000506031.1:n.*3494C>T
ENST00000681135.1:c.*3703C>T	ENSP00000506636.1:n.*3703C>T
ENST00000681298.1:n.4199C>T
ENST00000681454.1:c.*5330C>T	ENSP00000505763.1:n.*5330C>T
ENST00000277541.6:c.6094C>T	ENSP00000277541.6:p.Leu2032=
NM_017617.3:c.6094C>T	NP_060087.3:p.Leu2032=
XM_011518717.1:c.5395C>T	XP_011517019.1:p.Leu1799=
NM_017617.5:c.6094C>T MANE Select	NP_060087.3:p.Leu2032=
XM_011518717.2:c.5371C>T	XP_011517019.2:p.Leu1791=