Canonical Allele Identifier: CA2843639375

Gene: NOTCH3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.15180031T>A , CM000681.2:g.15180031T>A	GRCh38
NC_000019.9:g.15290842T>A , CM000681.1:g.15290842T>A	GRCh37
NC_000019.8:g.15151842T>A	NCBI36
NG_009819.1:g.25951A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263388.7:c.3327+41A>T MANE Select	ENSP00000263388.1:n.3327+41A>T
ENST00000263388.6:c.3327+41A>T	ENSP00000263388.1:n.3327+41A>T
ENST00000601011.1:c.3168+41A>T	ENSP00000473138.1:n.3168+41A>T
NM_000435.2:c.3327+41A>T	NP_000426.2:n.3327+41A>T
XM_005259924.3:c.3171+41A>T	XP_005259981.1:n.3171+41A>T
XM_005259924.4:c.3171+41A>T	XP_005259981.1:n.3171+41A>T
NM_000435.3:c.3327+41A>T MANE Select	NP_000426.2:n.3327+41A>T