Canonical Allele Identifier: CA375563300

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133368812
• MyVariant Identifiers: chr9:g.139412332C>G (hg19) ; chr9:g.136517880C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136517880C>G , CM000671.2:g.136517880C>G	GRCh38
NC_000009.11:g.139412332C>G , CM000671.1:g.139412332C>G	GRCh37
NC_000009.10:g.138532153C>G	NCBI36
NG_007458.1:g.32907G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.1313G>C MANE Select	ENSP00000498587.1:p.Cys438Ser
ENST00000679595.1:c.1313G>C	ENSP00000506241.1:p.Cys438Ser
ENST00000680133.1:c.1313G>C	ENSP00000505319.1:p.Cys438Ser
ENST00000680218.1:c.1313G>C	ENSP00000505339.1:p.Cys438Ser
ENST00000680668.1:c.1313G>C	ENSP00000506336.1:p.Cys438Ser
ENST00000680924.1:c.1313G>C	ENSP00000506031.1:p.Cys438Ser
ENST00000681135.1:c.1313G>C	ENSP00000506636.1:p.Cys438Ser
ENST00000681454.1:c.*549G>C	ENSP00000505763.1:n.*549G>C
ENST00000277541.6:c.1313G>C	ENSP00000277541.6:p.Cys438Ser
NM_017617.3:c.1313G>C	NP_060087.3:p.Cys438Ser
XM_011518717.1:c.614G>C	XP_011517019.1:p.Cys205Ser
NM_017617.5:c.1313G>C MANE Select	NP_060087.3:p.Cys438Ser
XM_011518717.2:c.590G>C	XP_011517019.2:p.Cys197Ser