Canonical Allele Identifier: CA375644769

Gene: NOTCH1

Linked Data

• dbSNP Id: rs1166328821
• gnomAD v4: 9-136504857-C-A
• MyVariant Identifiers: chr9:g.139399309C>A (hg19) ; chr9:g.136504857C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504857C>A , CM000671.2:g.136504857C>A	GRCh38
NC_000009.11:g.139399309C>A , CM000671.1:g.139399309C>A	GRCh37
NC_000009.10:g.138519130C>A	NCBI36
NG_007458.1:g.45930G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2641G>T
ENST00000651671.1:c.4834G>T MANE Select	ENSP00000498587.1:p.Gly1612Cys
ENST00000679595.1:c.4834G>T	ENSP00000506241.1:p.Gly1612Cys
ENST00000680133.1:c.4720G>T	ENSP00000505319.1:p.Gly1574Cys
ENST00000680218.1:c.4714G>T	ENSP00000505339.1:p.Gly1572Cys
ENST00000680668.1:c.4720G>T	ENSP00000506336.1:p.Gly1574Cys
ENST00000680778.1:c.2431G>T	ENSP00000506033.1:p.Gly811Cys
ENST00000680924.1:c.*2234G>T	ENSP00000506031.1:n.*2234G>T
ENST00000681135.1:c.*2443G>T	ENSP00000506636.1:n.*2443G>T
ENST00000681298.1:n.1647G>T
ENST00000681454.1:c.*4070G>T	ENSP00000505763.1:n.*4070G>T
ENST00000277541.6:c.4834G>T	ENSP00000277541.6:p.Gly1612Cys
NM_017617.3:c.4834G>T	NP_060087.3:p.Gly1612Cys
XM_011518717.1:c.4135G>T	XP_011517019.1:p.Gly1379Cys
NM_017617.5:c.4834G>T MANE Select	NP_060087.3:p.Gly1612Cys
XM_011518717.2:c.4111G>T	XP_011517019.2:p.Gly1371Cys