Canonical Allele Identifier: CA375644553

Gene: NOTCH1

Linked Data

• dbSNP Id: rs1203442527
• gnomAD v4: 9-136504812-G-T
• MyVariant Identifiers: chr9:g.139399264G>T (hg19) ; chr9:g.136504812G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504812G>T , CM000671.2:g.136504812G>T	GRCh38
NC_000009.11:g.139399264G>T , CM000671.1:g.139399264G>T	GRCh37
NC_000009.10:g.138519085G>T	NCBI36
NG_007458.1:g.45975C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2686C>A
ENST00000651671.1:c.4879C>A MANE Select	ENSP00000498587.1:p.Arg1627Ser
ENST00000679595.1:c.4879C>A	ENSP00000506241.1:p.Arg1627Ser
ENST00000680133.1:c.4765C>A	ENSP00000505319.1:p.Arg1589Ser
ENST00000680218.1:c.4759C>A	ENSP00000505339.1:p.Arg1587Ser
ENST00000680668.1:c.4765C>A	ENSP00000506336.1:p.Arg1589Ser
ENST00000680778.1:c.2476C>A	ENSP00000506033.1:p.Arg826Ser
ENST00000680924.1:c.*2279C>A	ENSP00000506031.1:n.*2279C>A
ENST00000681135.1:c.*2488C>A	ENSP00000506636.1:n.*2488C>A
ENST00000681298.1:n.1692C>A
ENST00000681454.1:c.*4115C>A	ENSP00000505763.1:n.*4115C>A
ENST00000277541.6:c.4879C>A	ENSP00000277541.6:p.Arg1627Ser
ENST00000494783.1:n.34C>A
NM_017617.3:c.4879C>A	NP_060087.3:p.Arg1627Ser
XM_011518717.1:c.4180C>A	XP_011517019.1:p.Arg1394Ser
NM_017617.5:c.4879C>A MANE Select	NP_060087.3:p.Arg1627Ser
XM_011518717.2:c.4156C>A	XP_011517019.2:p.Arg1386Ser