Canonical Allele Identifier: CA375644310

Gene: NOTCH1

Linked Data

• gnomAD v4: 9-136504751-T-A
• MyVariant Identifiers: chr9:g.139399203T>A (hg19) ; chr9:g.136504751T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504751T>A , CM000671.2:g.136504751T>A	GRCh38
NC_000009.11:g.139399203T>A , CM000671.1:g.139399203T>A	GRCh37
NC_000009.10:g.138519024T>A	NCBI36
NG_007458.1:g.46036A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2747A>T
ENST00000651671.1:c.4940A>T MANE Select	ENSP00000498587.1:p.Gln1647Leu
ENST00000679595.1:c.4940A>T	ENSP00000506241.1:p.Gln1647Leu
ENST00000680133.1:c.4826A>T	ENSP00000505319.1:p.Gln1609Leu
ENST00000680218.1:c.4820A>T	ENSP00000505339.1:p.Gln1607Leu
ENST00000680668.1:c.4826A>T	ENSP00000506336.1:p.Gln1609Leu
ENST00000680778.1:c.2537A>T	ENSP00000506033.1:p.Gln846Leu
ENST00000680924.1:c.*2340A>T	ENSP00000506031.1:n.*2340A>T
ENST00000681135.1:c.*2549A>T	ENSP00000506636.1:n.*2549A>T
ENST00000681298.1:n.1753A>T
ENST00000681454.1:c.*4176A>T	ENSP00000505763.1:n.*4176A>T
ENST00000277541.6:c.4940A>T	ENSP00000277541.6:p.Gln1647Leu
ENST00000494783.1:n.95A>T
NM_017617.3:c.4940A>T	NP_060087.3:p.Gln1647Leu
XM_011518717.1:c.4241A>T	XP_011517019.1:p.Gln1414Leu
NM_017617.5:c.4940A>T MANE Select	NP_060087.3:p.Gln1647Leu
XM_011518717.2:c.4217A>T	XP_011517019.2:p.Gln1406Leu