Canonical Allele Identifier: CA375644463

Gene: NOTCH1

Linked Data

• ClinVar Variation Id: 2916894
• ClinVar RCV Id: RCV003749726
• dbSNP Id: rs1247642509
• gnomAD v2: 9-139399246-G-T
• gnomAD v4: 9-136504794-G-T
• COSMIC: COSM6247284 ; COSM6247285
• MyVariant Identifiers: chr9:g.139399246G>T (hg19) ; chr9:g.136504794G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504794G>T , CM000671.2:g.136504794G>T	GRCh38
NC_000009.11:g.139399246G>T , CM000671.1:g.139399246G>T	GRCh37
NC_000009.10:g.138519067G>T	NCBI36
NG_007458.1:g.45993C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2704C>A
ENST00000651671.1:c.4897C>A MANE Select	ENSP00000498587.1:p.Arg1633Ser
ENST00000679595.1:c.4897C>A	ENSP00000506241.1:p.Arg1633Ser
ENST00000680133.1:c.4783C>A	ENSP00000505319.1:p.Arg1595Ser
ENST00000680218.1:c.4777C>A	ENSP00000505339.1:p.Arg1593Ser
ENST00000680668.1:c.4783C>A	ENSP00000506336.1:p.Arg1595Ser
ENST00000680778.1:c.2494C>A	ENSP00000506033.1:p.Arg832Ser
ENST00000680924.1:c.*2297C>A	ENSP00000506031.1:n.*2297C>A
ENST00000681135.1:c.*2506C>A	ENSP00000506636.1:n.*2506C>A
ENST00000681298.1:n.1710C>A
ENST00000681454.1:c.*4133C>A	ENSP00000505763.1:n.*4133C>A
ENST00000277541.6:c.4897C>A	ENSP00000277541.6:p.Arg1633Ser
ENST00000494783.1:n.52C>A
NM_017617.3:c.4897C>A	NP_060087.3:p.Arg1633Ser
XM_011518717.1:c.4198C>A	XP_011517019.1:p.Arg1400Ser
NM_017617.5:c.4897C>A MANE Select	NP_060087.3:p.Arg1633Ser
XM_011518717.2:c.4174C>A	XP_011517019.2:p.Arg1392Ser