Canonical Allele Identifier: CA375631189

Gene: NOTCH1

Linked Data

• ClinVar Variation Id: 1754264
• ClinVar RCV Id: RCV002364475
• dbSNP Id: rs1315402658
• MyVariant Identifiers: chr9:g.139391613C>T (hg19) ; chr9:g.136497161C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497161C>T , CM000671.2:g.136497161C>T	GRCh38
NC_000009.11:g.139391613C>T , CM000671.1:g.139391613C>T	GRCh37
NC_000009.10:g.138511434C>T	NCBI36
NG_007458.1:g.53626G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6578G>A MANE Select	ENSP00000498587.1:p.Ser2193Asn
ENST00000679595.1:c.*1618G>A	ENSP00000506241.1:n.*1618G>A
ENST00000679969.1:n.3174G>A
ENST00000680003.1:n.2910G>A
ENST00000680133.1:c.6464G>A	ENSP00000505319.1:p.Ser2155Asn
ENST00000680218.1:c.6458G>A	ENSP00000505339.1:p.Ser2153Asn
ENST00000680668.1:c.6464G>A	ENSP00000506336.1:p.Ser2155Asn
ENST00000680778.1:c.4175G>A	ENSP00000506033.1:p.Ser1392Asn
ENST00000680924.1:c.*3978G>A	ENSP00000506031.1:n.*3978G>A
ENST00000681135.1:c.*4187G>A	ENSP00000506636.1:n.*4187G>A
ENST00000681298.1:n.4683G>A
ENST00000681454.1:c.*5814G>A	ENSP00000505763.1:n.*5814G>A
ENST00000277541.6:c.6578G>A	ENSP00000277541.6:p.Ser2193Asn
NM_017617.3:c.6578G>A	NP_060087.3:p.Ser2193Asn
XM_011518717.1:c.5879G>A	XP_011517019.1:p.Ser1960Asn
NM_017617.5:c.6578G>A MANE Select	NP_060087.3:p.Ser2193Asn
XM_011518717.2:c.5855G>A	XP_011517019.2:p.Ser1952Asn