Canonical Allele Identifier: CA473461407

Gene: NELL1

Linked Data

• dbSNP Id: rs1250534696
• gnomAD v2: 11-20805257-T-C
• gnomAD v3: 11-20783711-T-C
• gnomAD v4: 11-20783711-T-C
• MyVariant Identifiers: chr11:g.20805257T>C (hg19) ; chr11:g.20783711T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.20783711T>C , CM000673.2:g.20783711T>C	GRCh38
NC_000011.9:g.20805257T>C , CM000673.1:g.20805257T>C	GRCh37
NC_000011.8:g.20761833T>C	NCBI36
NG_047064.1:g.119161T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357134.10:c.216T>C MANE Select	ENSP00000349654.5:p.His72=
ENST00000298925.9:c.300T>C	ENSP00000298925.5:p.His100=
ENST00000325319.9:c.216T>C	ENSP00000317837.5:p.His72=
ENST00000357134.9:c.216T>C	ENSP00000349654.5:p.His72=
ENST00000524738.1:n.43T>C
ENST00000527873.5:n.237T>C
ENST00000528046.5:n.399T>C
ENST00000529595.1:n.104T>C
ENST00000532434.5:c.216T>C	ENSP00000437170.1:p.His72=
ENST00000619031.4:c.-497T>C	ENSP00000479479.1:n.-497T>C
NM_001288713.1:c.300T>C	NP_001275642.1:p.His100=
NM_001288714.1:c.216T>C	NP_001275643.1:p.His72=
NM_006157.4:c.216T>C	NP_006148.2:p.His72=
NM_201551.2:c.216T>C	NP_963845.1:p.His72=
NM_006157.5:c.216T>C MANE Select	NP_006148.2:p.His72=