Canonical Allele Identifier: CA467742076

Gene: NOTCH1

Linked Data

• gnomAD v4: 9-136504756-C-A
• MyVariant Identifiers: chr9:g.139399208C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504756C>A , CM000671.2:g.136504756C>A	GRCh38
NC_000009.11:g.139399208C>A , CM000671.1:g.139399208C>A	GRCh37
NC_000009.10:g.138519029C>A	NCBI36
NG_007458.1:g.46031G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2742G>T
ENST00000651671.1:c.4935G>T MANE Select	ENSP00000498587.1:p.Leu1645=
ENST00000679595.1:c.4935G>T	ENSP00000506241.1:p.Leu1645=
ENST00000680133.1:c.4821G>T	ENSP00000505319.1:p.Leu1607=
ENST00000680218.1:c.4815G>T	ENSP00000505339.1:p.Leu1605=
ENST00000680668.1:c.4821G>T	ENSP00000506336.1:p.Leu1607=
ENST00000680778.1:c.2532G>T	ENSP00000506033.1:p.Leu844=
ENST00000680924.1:c.*2335G>T	ENSP00000506031.1:n.*2335G>T
ENST00000681135.1:c.*2544G>T	ENSP00000506636.1:n.*2544G>T
ENST00000681298.1:n.1748G>T
ENST00000681454.1:c.*4171G>T	ENSP00000505763.1:n.*4171G>T
ENST00000277541.6:c.4935G>T	ENSP00000277541.6:p.Leu1645=
ENST00000494783.1:n.90G>T
NM_017617.3:c.4935G>T	NP_060087.3:p.Leu1645=
XM_011518717.1:c.4236G>T	XP_011517019.1:p.Leu1412=
NM_017617.5:c.4935G>T MANE Select	NP_060087.3:p.Leu1645=
XM_011518717.2:c.4212G>T	XP_011517019.2:p.Leu1404=