Canonical Allele Identifier: CA217640

Gene: NEFH

Linked Data

• ClinVar Variation Id: 66733
• ClinVar RCV Id: RCV000057185 ; RCV000625210 ; RCV001699028 ; RCV001781391 ; RCV002496749
• dbSNP Id: rs5763269
• ExAC: 22:29885473 C / T
• gnomAD v2: 22-29885473-C-T
• gnomAD v3: 22-29489484-C-T
• gnomAD v4: 22-29489484-C-T
• MyVariant Identifiers: chr22:g.29885473C>T (hg19) ; chr22:g.29885473_29885475delinsTGG (hg19) ; chr22:g.29489484C>T (hg38) ; chr22:g.29489484_29489486delinsTGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29489484C>T , CM000684.2:g.29489484C>T	GRCh38
NC_000022.10:g.29885473C>T , CM000684.1:g.29885473C>T	GRCh37
NC_000022.9:g.28215473C>T	NCBI36
NG_008404.1:g.14293C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310624.7:c.1844C>T MANE Select	ENSP00000311997.6:p.Pro615Leu
ENST00000310624.6:c.1844C>T	ENSP00000311997.6:p.Pro615Leu
NM_021076.3:c.1844C>T	NP_066554.2:p.Pro615Leu
XM_011530200.1:c.1653-97C>T	XP_011528502.1:n.1653-97C>T
XM_011530200.2:c.1653-97C>T	XP_011528502.1:n.1653-97C>T
NM_021076.4:c.1844C>T MANE Select	NP_066554.2:p.Pro615Leu