Canonical Allele Identifier: CA305778085
Gene: NOTCH3 HGNC NCBI

Linked Data

dbSNP Id: rs908207102
gnomAD v2: 19-15303044-C-A
gnomAD v3: 19-15192233-C-A
gnomAD v4: 19-15192233-C-A
MyVariant Identifiers: chr19:g.15303044C>A (hg19) chr19:g.15192233C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15192233C>A , CM000681.2:g.15192233C>A GRCh38
NC_000019.9:g.15303044C>A , CM000681.1:g.15303044C>A GRCh37
NC_000019.8:g.15164044C>A NCBI36
NG_009819.1:g.13749G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.406G>T MANE Select ENSP00000263388.1:p.Val136Leu
ENST00000263388.6:c.406G>T ENSP00000263388.1:p.Val136Leu
ENST00000601011.1:c.403G>T ENSP00000473138.1:p.Val135Leu
NM_000435.2:c.406G>T NP_000426.2:p.Val136Leu
XM_005259924.3:c.406G>T XP_005259981.1:p.Val136Leu
XM_005259924.4:c.406G>T XP_005259981.1:p.Val136Leu
NM_000435.3:c.406G>T MANE Select NP_000426.2:p.Val136Leu
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