Canonical Allele Identifier: CA375643956

Gene: NOTCH1

Linked Data

• ClinVar Variation Id: 1744744
• ClinVar RCV Id: RCV002343086
• dbSNP Id: rs1157456139
• gnomAD v3: 9-136504683-C-A
• gnomAD v4: 9-136504683-C-A
• MyVariant Identifiers: chr9:g.139399135C>A (hg19) ; chr9:g.136504683C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504683C>A , CM000671.2:g.136504683C>A	GRCh38
NC_000009.11:g.139399135C>A , CM000671.1:g.139399135C>A	GRCh37
NC_000009.10:g.138518956C>A	NCBI36
NG_007458.1:g.46104G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2815G>T
ENST00000651671.1:c.5008G>T MANE Select	ENSP00000498587.1:p.Asp1670Tyr
ENST00000679595.1:c.5008G>T	ENSP00000506241.1:p.Asp1670Tyr
ENST00000680133.1:c.4894G>T	ENSP00000505319.1:p.Asp1632Tyr
ENST00000680218.1:c.4888G>T	ENSP00000505339.1:p.Asp1630Tyr
ENST00000680668.1:c.4894G>T	ENSP00000506336.1:p.Asp1632Tyr
ENST00000680778.1:c.2605G>T	ENSP00000506033.1:p.Asp869Tyr
ENST00000680924.1:c.*2408G>T	ENSP00000506031.1:n.*2408G>T
ENST00000681135.1:c.*2617G>T	ENSP00000506636.1:n.*2617G>T
ENST00000681298.1:n.1821G>T
ENST00000681454.1:c.*4244G>T	ENSP00000505763.1:n.*4244G>T
ENST00000277541.6:c.5008G>T	ENSP00000277541.6:p.Asp1670Tyr
ENST00000494783.1:n.163G>T
NM_017617.3:c.5008G>T	NP_060087.3:p.Asp1670Tyr
XM_011518717.1:c.4309G>T	XP_011517019.1:p.Asp1437Tyr
NM_017617.5:c.5008G>T MANE Select	NP_060087.3:p.Asp1670Tyr
XM_011518717.2:c.4285G>T	XP_011517019.2:p.Asp1429Tyr