Canonical Allele Identifier: CA201637767

Gene: NOTCH1

Linked Data

• dbSNP Id: rs904390061
• MyVariant Identifiers: chr9:g.139393596G>A (hg19) ; chr9:g.136499144G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136499144G>A , CM000671.2:g.136499144G>A	GRCh38
NC_000009.11:g.139393596G>A , CM000671.1:g.139393596G>A	GRCh37
NC_000009.10:g.138513417G>A	NCBI36
NG_007458.1:g.51643C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6050C>T MANE Select	ENSP00000498587.1:p.Ser2017Leu
ENST00000679595.1:c.*1090C>T	ENSP00000506241.1:n.*1090C>T
ENST00000679969.1:n.2531C>T
ENST00000680003.1:n.2382C>T
ENST00000680133.1:c.5936C>T	ENSP00000505319.1:p.Ser1979Leu
ENST00000680218.1:c.5930C>T	ENSP00000505339.1:p.Ser1977Leu
ENST00000680668.1:c.5936C>T	ENSP00000506336.1:p.Ser1979Leu
ENST00000680778.1:c.3647C>T	ENSP00000506033.1:p.Ser1216Leu
ENST00000680924.1:c.*3450C>T	ENSP00000506031.1:n.*3450C>T
ENST00000681135.1:c.*3659C>T	ENSP00000506636.1:n.*3659C>T
ENST00000681298.1:n.4155C>T
ENST00000681454.1:c.*5286C>T	ENSP00000505763.1:n.*5286C>T
ENST00000277541.6:c.6050C>T	ENSP00000277541.6:p.Ser2017Leu
NM_017617.3:c.6050C>T	NP_060087.3:p.Ser2017Leu
XM_011518717.1:c.5351C>T	XP_011517019.1:p.Ser1784Leu
NM_017617.5:c.6050C>T MANE Select	NP_060087.3:p.Ser2017Leu
XM_011518717.2:c.5327C>T	XP_011517019.2:p.Ser1776Leu