Canonical Allele Identifier: CA404524082
Gene: NOTCH3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15186913T>C , CM000681.2:g.15186913T>C GRCh38
NC_000019.9:g.15297724T>C , CM000681.1:g.15297724T>C GRCh37
NC_000019.8:g.15158724T>C NCBI36
NG_009819.1:g.19069A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.1916A>G MANE Select ENSP00000263388.1:p.Asn639Ser
ENST00000263388.6:c.1916A>G ENSP00000263388.1:p.Asn639Ser
ENST00000601011.1:c.1913A>G ENSP00000473138.1:p.Asn638Ser
NM_000435.2:c.1916A>G NP_000426.2:p.Asn639Ser
XM_005259924.3:c.1916A>G XP_005259981.1:p.Asn639Ser
XM_005259924.4:c.1916A>G XP_005259981.1:p.Asn639Ser
NM_000435.3:c.1916A>G MANE Select NP_000426.2:p.Asn639Ser