Canonical Allele Identifier: CA9263023
Gene: NOTCH3 HGNC NCBI

Linked Data

ClinVar Variation Id: 425164
ClinVar RCV Id: RCV000487935 RCV000499633 RCV000999639
dbSNP Id: rs199638166
ExAC: 19:15289890 A / C
gnomAD v2: 19-15289890-A-C
gnomAD v3: 19-15179079-A-C
gnomAD v4: 19-15179079-A-C
MyVariant Identifiers: chr19:g.15289890A>C (hg19) chr19:g.15179079A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15179079A>C , CM000681.2:g.15179079A>C GRCh38
NC_000019.9:g.15289890A>C , CM000681.1:g.15289890A>C GRCh37
NC_000019.8:g.15150890A>C NCBI36
NG_009819.1:g.26903T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000263388.7:c.3664T>G MANE Select ENSP00000263388.1:p.Cys1222Gly
ENST00000263388.6:c.3664T>G ENSP00000263388.1:p.Cys1222Gly
ENST00000595045.1:n.500T>G
ENST00000600841.1:n.142T>G
ENST00000601011.1:c.3505T>G ENSP00000473138.1:p.Cys1169Gly
NM_000435.2:c.3664T>G NP_000426.2:p.Cys1222Gly
XM_005259924.3:c.3508T>G XP_005259981.1:p.Cys1170Gly
XM_005259924.4:c.3508T>G XP_005259981.1:p.Cys1170Gly
NM_000435.3:c.3664T>G MANE Select NP_000426.2:p.Cys1222Gly
Search 100 bp 5'
Search 100 bp 3'