Canonical Allele Identifier: CA234373

Gene: NHLRC1

Linked Data

• ClinVar Variation Id: 167350
• ClinVar RCV Id: RCV000723909 ; RCV001086050 ; RCV002316968 ; RCV003927484
• dbSNP Id: rs139029314
• ExAC: 6:18122806 G / T
• gnomAD v2: 6-18122806-G-T
• gnomAD v3: 6-18122575-G-T
• gnomAD v4: 6-18122575-G-T
• MyVariant Identifiers: chr6:g.18122806G>T (hg19) ; chr6:g.18122575G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.18122575G>T , CM000668.2:g.18122575G>T	GRCh38
NC_000006.11:g.18122806G>T , CM000668.1:g.18122806G>T	GRCh37
NC_000006.10:g.18230785G>T	NCBI36
NG_016750.1:g.5046C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340650.6:c.32C>A MANE Select	ENSP00000345464.3:p.Ala11Glu
ENST00000340650.4:c.32C>A	ENSP00000345464.3:p.Ala11Glu
NM_198586.2:c.32C>A	NP_940988.2:p.Ala11Glu
NM_198586.3:c.32C>A MANE Select	NP_940988.2:p.Ala11Glu