Canonical Allele Identifier: CA375634259

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133322529
• MyVariant Identifiers: chr9:g.139393573C>G (hg19) ; chr9:g.136499121C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136499121C>G , CM000671.2:g.136499121C>G	GRCh38
NC_000009.11:g.139393573C>G , CM000671.1:g.139393573C>G	GRCh37
NC_000009.10:g.138513394C>G	NCBI36
NG_007458.1:g.51666G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6073G>C MANE Select	ENSP00000498587.1:p.Asp2025His
ENST00000679595.1:c.*1113G>C	ENSP00000506241.1:n.*1113G>C
ENST00000679969.1:n.2554G>C
ENST00000680003.1:n.2405G>C
ENST00000680133.1:c.5959G>C	ENSP00000505319.1:p.Asp1987His
ENST00000680218.1:c.5953G>C	ENSP00000505339.1:p.Asp1985His
ENST00000680668.1:c.5959G>C	ENSP00000506336.1:p.Asp1987His
ENST00000680778.1:c.3670G>C	ENSP00000506033.1:p.Asp1224His
ENST00000680924.1:c.*3473G>C	ENSP00000506031.1:n.*3473G>C
ENST00000681135.1:c.*3682G>C	ENSP00000506636.1:n.*3682G>C
ENST00000681298.1:n.4178G>C
ENST00000681454.1:c.*5309G>C	ENSP00000505763.1:n.*5309G>C
ENST00000277541.6:c.6073G>C	ENSP00000277541.6:p.Asp2025His
NM_017617.3:c.6073G>C	NP_060087.3:p.Asp2025His
XM_011518717.1:c.5374G>C	XP_011517019.1:p.Asp1792His
NM_017617.5:c.6073G>C MANE Select	NP_060087.3:p.Asp2025His
XM_011518717.2:c.5350G>C	XP_011517019.2:p.Asp1784His