Canonical Allele Identifier: CA404533251
Gene: NOTCH3 HGNC NCBI

Linked Data

dbSNP Id: rs2145441356
COSMIC: COSM3529572 COSM3529573
MyVariant Identifiers: chr19:g.15302824C>T (hg19) chr19:g.15192013C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15192013C>T , CM000681.2:g.15192013C>T GRCh38
NC_000019.9:g.15302824C>T , CM000681.1:g.15302824C>T GRCh37
NC_000019.8:g.15163824C>T NCBI36
NG_009819.1:g.13969G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.626G>A MANE Select ENSP00000263388.1:p.Gly209Glu
ENST00000263388.6:c.626G>A ENSP00000263388.1:p.Gly209Glu
ENST00000601011.1:c.623G>A ENSP00000473138.1:p.Gly208Glu
NM_000435.2:c.626G>A NP_000426.2:p.Gly209Glu
XM_005259924.3:c.626G>A XP_005259981.1:p.Gly209Glu
XM_005259924.4:c.626G>A XP_005259981.1:p.Gly209Glu
NM_000435.3:c.626G>A MANE Select NP_000426.2:p.Gly209Glu
Search 100 bp 5'
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