Canonical Allele Identifier: CA505824356
Gene: NOTCH3 HGNC NCBI

Linked Data

dbSNP Id: rs1291304786
gnomAD v2: 19-15291006-G-A
gnomAD v4: 19-15180195-G-A
MyVariant Identifiers: chr19:g.15291006G>A (hg19) chr19:g.15180195G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15180195G>A , CM000681.2:g.15180195G>A GRCh38
NC_000019.9:g.15291006G>A , CM000681.1:g.15291006G>A GRCh37
NC_000019.8:g.15152006G>A NCBI36
NG_009819.1:g.25787C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.3204C>T MANE Select ENSP00000263388.1:p.His1068=
ENST00000263388.6:c.3204C>T ENSP00000263388.1:p.His1068=
ENST00000601011.1:c.3045C>T ENSP00000473138.1:p.His1015=
NM_000435.2:c.3204C>T NP_000426.2:p.His1068=
XM_005259924.3:c.3048C>T XP_005259981.1:p.His1016=
XM_005259924.4:c.3048C>T XP_005259981.1:p.His1016=
NM_000435.3:c.3204C>T MANE Select NP_000426.2:p.His1068=
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