Canonical Allele Identifier: CA375633637

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133321410
• MyVariant Identifiers: chr9:g.139393351C>A (hg19) ; chr9:g.136498899C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136498899C>A , CM000671.2:g.136498899C>A	GRCh38
NC_000009.11:g.139393351C>A , CM000671.1:g.139393351C>A	GRCh37
NC_000009.10:g.138513172C>A	NCBI36
NG_007458.1:g.51888G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6180G>T MANE Select	ENSP00000498587.1:p.Arg2060Ser
ENST00000679595.1:c.*1220G>T	ENSP00000506241.1:n.*1220G>T
ENST00000679969.1:n.2776G>T
ENST00000680003.1:n.2512G>T
ENST00000680133.1:c.6066G>T	ENSP00000505319.1:p.Arg2022Ser
ENST00000680218.1:c.6060G>T	ENSP00000505339.1:p.Arg2020Ser
ENST00000680668.1:c.6066G>T	ENSP00000506336.1:p.Arg2022Ser
ENST00000680778.1:c.3777G>T	ENSP00000506033.1:p.Arg1259Ser
ENST00000680924.1:c.*3580G>T	ENSP00000506031.1:n.*3580G>T
ENST00000681135.1:c.*3789G>T	ENSP00000506636.1:n.*3789G>T
ENST00000681298.1:n.4285G>T
ENST00000681454.1:c.*5416G>T	ENSP00000505763.1:n.*5416G>T
ENST00000277541.6:c.6180G>T	ENSP00000277541.6:p.Arg2060Ser
NM_017617.3:c.6180G>T	NP_060087.3:p.Arg2060Ser
XM_011518717.1:c.5481G>T	XP_011517019.1:p.Arg1827Ser
NM_017617.5:c.6180G>T MANE Select	NP_060087.3:p.Arg2060Ser
XM_011518717.2:c.5457G>T	XP_011517019.2:p.Arg1819Ser