Canonical Allele Identifier: CA375643990

Gene: NOTCH1

Linked Data

• gnomAD v4: 9-136504686-T-A
• MyVariant Identifiers: chr9:g.139399138T>A (hg19) ; chr9:g.136504686T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504686T>A , CM000671.2:g.136504686T>A	GRCh38
NC_000009.11:g.139399138T>A , CM000671.1:g.139399138T>A	GRCh37
NC_000009.10:g.138518959T>A	NCBI36
NG_007458.1:g.46101A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2812A>T
ENST00000651671.1:c.5005A>T MANE Select	ENSP00000498587.1:p.Met1669Leu
ENST00000679595.1:c.5005A>T	ENSP00000506241.1:p.Met1669Leu
ENST00000680133.1:c.4891A>T	ENSP00000505319.1:p.Met1631Leu
ENST00000680218.1:c.4885A>T	ENSP00000505339.1:p.Met1629Leu
ENST00000680668.1:c.4891A>T	ENSP00000506336.1:p.Met1631Leu
ENST00000680778.1:c.2602A>T	ENSP00000506033.1:p.Met868Leu
ENST00000680924.1:c.*2405A>T	ENSP00000506031.1:n.*2405A>T
ENST00000681135.1:c.*2614A>T	ENSP00000506636.1:n.*2614A>T
ENST00000681298.1:n.1818A>T
ENST00000681454.1:c.*4241A>T	ENSP00000505763.1:n.*4241A>T
ENST00000277541.6:c.5005A>T	ENSP00000277541.6:p.Met1669Leu
ENST00000494783.1:n.160A>T
NM_017617.3:c.5005A>T	NP_060087.3:p.Met1669Leu
XM_011518717.1:c.4306A>T	XP_011517019.1:p.Met1436Leu
NM_017617.5:c.5005A>T MANE Select	NP_060087.3:p.Met1669Leu
XM_011518717.2:c.4282A>T	XP_011517019.2:p.Met1428Leu