Canonical Allele Identifier: CA375644834

Gene: NOTCH1

Linked Data

• dbSNP Id: rs1005968621
• gnomAD v4: 9-136504871-T-A
• MyVariant Identifiers: chr9:g.139399323T>A (hg19) ; chr9:g.136504871T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504871T>A , CM000671.2:g.136504871T>A	GRCh38
NC_000009.11:g.139399323T>A , CM000671.1:g.139399323T>A	GRCh37
NC_000009.10:g.138519144T>A	NCBI36
NG_007458.1:g.45916A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2627A>T
ENST00000651671.1:c.4820A>T MANE Select	ENSP00000498587.1:p.Lys1607Met
ENST00000679595.1:c.4820A>T	ENSP00000506241.1:p.Lys1607Met
ENST00000680133.1:c.4706A>T	ENSP00000505319.1:p.Lys1569Met
ENST00000680218.1:c.4700A>T	ENSP00000505339.1:p.Lys1567Met
ENST00000680668.1:c.4706A>T	ENSP00000506336.1:p.Lys1569Met
ENST00000680778.1:c.2417A>T	ENSP00000506033.1:p.Lys806Met
ENST00000680924.1:c.*2220A>T	ENSP00000506031.1:n.*2220A>T
ENST00000681135.1:c.*2429A>T	ENSP00000506636.1:n.*2429A>T
ENST00000681298.1:n.1633A>T
ENST00000681454.1:c.*4056A>T	ENSP00000505763.1:n.*4056A>T
ENST00000277541.6:c.4820A>T	ENSP00000277541.6:p.Lys1607Met
NM_017617.3:c.4820A>T	NP_060087.3:p.Lys1607Met
XM_011518717.1:c.4121A>T	XP_011517019.1:p.Lys1374Met
NM_017617.5:c.4820A>T MANE Select	NP_060087.3:p.Lys1607Met
XM_011518717.2:c.4097A>T	XP_011517019.2:p.Lys1366Met