Canonical Allele Identifier: CA10576036
Gene: NEFH HGNC NCBI

Linked Data

ClinVar Variation Id: 225630
ClinVar RCV Id: RCV000210935 RCV001853394
dbSNP Id: rs876657411
MyVariant Identifiers: chr22:g.29886639_29886640del (hg19) chr22:g.29490650_29490651del (hg38)
PubMed: PMID:27040688
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.29490650_29490651del , CM000684.2:g.29490650_29490651del GRCh38
NC_000022.10:g.29886639_29886640del , CM000684.1:g.29886639_29886640del GRCh37
NC_000022.9:g.28216639_28216640del NCBI36
NG_008404.1:g.15459_15460del

Transcript Alleles

HGVS Amino-acid change
ENST00000310624.7:c.3010_3011del MANE Select ENSP00000311997.6:p.Asp1004GlnfsTer?
ENST00000310624.6:c.3010_3011del ENSP00000311997.6:p.Asp1004GlnfsTer?
NM_021076.3:c.3010_3011del NP_066554.2:p.Asp1004GlnfsTer?
XM_011530200.1:c.2722_2723del XP_011528502.1:p.Asp908GlnfsTer?
XM_011530200.2:c.2722_2723del XP_011528502.1:p.Asp908GlnfsTer?
NM_021076.4:c.3010_3011del MANE Select NP_066554.2:p.Asp1004GlnfsTer?
Search 100 bp 5'
Search 100 bp 3'