Canonical Allele Identifier: CA375631634

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133318463
• gnomAD v4: 9-136497277-C-A
• MyVariant Identifiers: chr9:g.139391729C>A (hg19) ; chr9:g.136497277C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497277C>A , CM000671.2:g.136497277C>A	GRCh38
NC_000009.11:g.139391729C>A , CM000671.1:g.139391729C>A	GRCh37
NC_000009.10:g.138511550C>A	NCBI36
NG_007458.1:g.53510G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6462G>T MANE Select	ENSP00000498587.1:p.Gln2154His
ENST00000679595.1:c.*1502G>T	ENSP00000506241.1:n.*1502G>T
ENST00000679969.1:n.3058G>T
ENST00000680003.1:n.2794G>T
ENST00000680133.1:c.6348G>T	ENSP00000505319.1:p.Gln2116His
ENST00000680218.1:c.6342G>T	ENSP00000505339.1:p.Gln2114His
ENST00000680668.1:c.6348G>T	ENSP00000506336.1:p.Gln2116His
ENST00000680778.1:c.4059G>T	ENSP00000506033.1:p.Gln1353His
ENST00000680924.1:c.*3862G>T	ENSP00000506031.1:n.*3862G>T
ENST00000681135.1:c.*4071G>T	ENSP00000506636.1:n.*4071G>T
ENST00000681298.1:n.4567G>T
ENST00000681454.1:c.*5698G>T	ENSP00000505763.1:n.*5698G>T
ENST00000277541.6:c.6462G>T	ENSP00000277541.6:p.Gln2154His
NM_017617.3:c.6462G>T	NP_060087.3:p.Gln2154His
XM_011518717.1:c.5763G>T	XP_011517019.1:p.Gln1921His
NM_017617.5:c.6462G>T MANE Select	NP_060087.3:p.Gln2154His
XM_011518717.2:c.5739G>T	XP_011517019.2:p.Gln1913His