Canonical Allele Identifier: CA467738407

Gene: NOTCH1

Linked Data

• dbSNP Id: rs1486152529
• gnomAD v2: 9-139393567-G-A
• MyVariant Identifiers: chr9:g.139393567G>A (hg19) ; chr9:g.136499115G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136499115G>A , CM000671.2:g.136499115G>A	GRCh38
NC_000009.11:g.139393567G>A , CM000671.1:g.139393567G>A	GRCh37
NC_000009.10:g.138513388G>A	NCBI36
NG_007458.1:g.51672C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6079C>T MANE Select	ENSP00000498587.1:p.Leu2027=
ENST00000679595.1:c.*1119C>T	ENSP00000506241.1:n.*1119C>T
ENST00000679969.1:n.2560C>T
ENST00000680003.1:n.2411C>T
ENST00000680133.1:c.5965C>T	ENSP00000505319.1:p.Leu1989=
ENST00000680218.1:c.5959C>T	ENSP00000505339.1:p.Leu1987=
ENST00000680668.1:c.5965C>T	ENSP00000506336.1:p.Leu1989=
ENST00000680778.1:c.3676C>T	ENSP00000506033.1:p.Leu1226=
ENST00000680924.1:c.*3479C>T	ENSP00000506031.1:n.*3479C>T
ENST00000681135.1:c.*3688C>T	ENSP00000506636.1:n.*3688C>T
ENST00000681298.1:n.4184C>T
ENST00000681454.1:c.*5315C>T	ENSP00000505763.1:n.*5315C>T
ENST00000277541.6:c.6079C>T	ENSP00000277541.6:p.Leu2027=
NM_017617.3:c.6079C>T	NP_060087.3:p.Leu2027=
XM_011518717.1:c.5380C>T	XP_011517019.1:p.Leu1794=
NM_017617.5:c.6079C>T MANE Select	NP_060087.3:p.Leu2027=
XM_011518717.2:c.5356C>T	XP_011517019.2:p.Leu1786=