Canonical Allele Identifier: CA375645278

Gene: NOTCH1

Linked Data

• MyVariant Identifiers: chr9:g.139399411C>G (hg19) ; chr9:g.136504959C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504959C>G , CM000671.2:g.136504959C>G	GRCh38
NC_000009.11:g.139399411C>G , CM000671.1:g.139399411C>G	GRCh37
NC_000009.10:g.138519232C>G	NCBI36
NG_007458.1:g.45828G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2539G>C
ENST00000651671.1:c.4732G>C MANE Select	ENSP00000498587.1:p.Val1578Leu
ENST00000679595.1:c.4732G>C	ENSP00000506241.1:p.Val1578Leu
ENST00000680133.1:c.4618G>C	ENSP00000505319.1:p.Val1540Leu
ENST00000680218.1:c.4612G>C	ENSP00000505339.1:p.Val1538Leu
ENST00000680668.1:c.4618G>C	ENSP00000506336.1:p.Val1540Leu
ENST00000680778.1:c.2329G>C	ENSP00000506033.1:p.Val777Leu
ENST00000680924.1:c.*2132G>C	ENSP00000506031.1:n.*2132G>C
ENST00000681135.1:c.*2341G>C	ENSP00000506636.1:n.*2341G>C
ENST00000681298.1:n.1545G>C
ENST00000681454.1:c.*3968G>C	ENSP00000505763.1:n.*3968G>C
ENST00000277541.6:c.4732G>C	ENSP00000277541.6:p.Val1578Leu
NM_017617.3:c.4732G>C	NP_060087.3:p.Val1578Leu
XM_011518717.1:c.4033G>C	XP_011517019.1:p.Val1345Leu
NM_017617.5:c.4732G>C MANE Select	NP_060087.3:p.Val1578Leu
XM_011518717.2:c.4009G>C	XP_011517019.2:p.Val1337Leu