Canonical Allele Identifier: CA375644158

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133335818
• gnomAD v4: 9-136504716-C-A
• MyVariant Identifiers: chr9:g.139399168C>A (hg19) ; chr9:g.136504716C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504716C>A , CM000671.2:g.136504716C>A	GRCh38
NC_000009.11:g.139399168C>A , CM000671.1:g.139399168C>A	GRCh37
NC_000009.10:g.138518989C>A	NCBI36
NG_007458.1:g.46071G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2782G>T
ENST00000651671.1:c.4975G>T MANE Select	ENSP00000498587.1:p.Gly1659Cys
ENST00000679595.1:c.4975G>T	ENSP00000506241.1:p.Gly1659Cys
ENST00000680133.1:c.4861G>T	ENSP00000505319.1:p.Gly1621Cys
ENST00000680218.1:c.4855G>T	ENSP00000505339.1:p.Gly1619Cys
ENST00000680668.1:c.4861G>T	ENSP00000506336.1:p.Gly1621Cys
ENST00000680778.1:c.2572G>T	ENSP00000506033.1:p.Gly858Cys
ENST00000680924.1:c.*2375G>T	ENSP00000506031.1:n.*2375G>T
ENST00000681135.1:c.*2584G>T	ENSP00000506636.1:n.*2584G>T
ENST00000681298.1:n.1788G>T
ENST00000681454.1:c.*4211G>T	ENSP00000505763.1:n.*4211G>T
ENST00000277541.6:c.4975G>T	ENSP00000277541.6:p.Gly1659Cys
ENST00000494783.1:n.130G>T
NM_017617.3:c.4975G>T	NP_060087.3:p.Gly1659Cys
XM_011518717.1:c.4276G>T	XP_011517019.1:p.Gly1426Cys
NM_017617.5:c.4975G>T MANE Select	NP_060087.3:p.Gly1659Cys
XM_011518717.2:c.4252G>T	XP_011517019.2:p.Gly1418Cys