Canonical Allele Identifier: CA631945131
Gene: NOTCH3 HGNC NCBI

Linked Data

dbSNP Id: rs1379825326
gnomAD v2: 19-15298194-T-G
gnomAD v3: 19-15187383-T-G
gnomAD v4: 19-15187383-T-G
MyVariant Identifiers: chr19:g.15298194T>G (hg19) chr19:g.15187383T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15187383T>G , CM000681.2:g.15187383T>G GRCh38
NC_000019.9:g.15298194T>G , CM000681.1:g.15298194T>G GRCh37
NC_000019.8:g.15159194T>G NCBI36
NG_009819.1:g.18599A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.1607-45A>C MANE Select ENSP00000263388.1:n.1607-45A>C
ENST00000263388.6:c.1607-45A>C ENSP00000263388.1:n.1607-45A>C
ENST00000601011.1:c.1604-45A>C ENSP00000473138.1:n.1604-45A>C
NM_000435.2:c.1607-45A>C NP_000426.2:n.1607-45A>C
XM_005259924.3:c.1607-45A>C XP_005259981.1:n.1607-45A>C
XM_005259924.4:c.1607-45A>C XP_005259981.1:n.1607-45A>C
NM_000435.3:c.1607-45A>C MANE Select NP_000426.2:n.1607-45A>C
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