Canonical Allele Identifier: CA467738335

Gene: NOTCH1

Linked Data

• dbSNP Id: rs1060504524
• gnomAD v4: 9-136498995-G-A
• MyVariant Identifiers: chr9:g.139393447G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136498995G>A , CM000671.2:g.136498995G>A	GRCh38
NC_000009.11:g.139393447G>A , CM000671.1:g.139393447G>A	GRCh37
NC_000009.10:g.138513268G>A	NCBI36
NG_007458.1:g.51792C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6084C>T MANE Select	ENSP00000498587.1:p.Gly2028=
ENST00000679595.1:c.*1124C>T	ENSP00000506241.1:n.*1124C>T
ENST00000679969.1:n.2680C>T
ENST00000680003.1:n.2416C>T
ENST00000680133.1:c.5970C>T	ENSP00000505319.1:p.Gly1990=
ENST00000680218.1:c.5964C>T	ENSP00000505339.1:p.Gly1988=
ENST00000680668.1:c.5970C>T	ENSP00000506336.1:p.Gly1990=
ENST00000680778.1:c.3681C>T	ENSP00000506033.1:p.Gly1227=
ENST00000680924.1:c.*3484C>T	ENSP00000506031.1:n.*3484C>T
ENST00000681135.1:c.*3693C>T	ENSP00000506636.1:n.*3693C>T
ENST00000681298.1:n.4189C>T
ENST00000681454.1:c.*5320C>T	ENSP00000505763.1:n.*5320C>T
ENST00000277541.6:c.6084C>T	ENSP00000277541.6:p.Gly2028=
NM_017617.3:c.6084C>T	NP_060087.3:p.Gly2028=
XM_011518717.1:c.5385C>T	XP_011517019.1:p.Gly1795=
NM_017617.5:c.6084C>T MANE Select	NP_060087.3:p.Gly2028=
XM_011518717.2:c.5361C>T	XP_011517019.2:p.Gly1787=