Canonical Allele Identifier: CA115628

Gene: NHLRC1

Linked Data

• ClinVar Variation Id: 2586
• ClinVar RCV Id: RCV000002704 ; RCV000192025 ; RCV000483691
• dbSNP Id: rs28940575
• gnomAD v2: 6-18122762-A-T
• gnomAD v3: 6-18122531-A-T
• gnomAD v4: 6-18122531-A-T
• MyVariant Identifiers: chr6:g.18122762A>T (hg19) ; chr6:g.18122531A>T (hg38)
• PubMed: PMID:12958597 ; PMID:12960212 ; PMID:16950819 ; PMID:20301563

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.18122531A>T , CM000668.2:g.18122531A>T	GRCh38
NC_000006.11:g.18122762A>T , CM000668.1:g.18122762A>T	GRCh37
NC_000006.10:g.18230741A>T	NCBI36
NG_016750.1:g.5090T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340650.6:c.76T>A MANE Select	ENSP00000345464.3:p.Cys26Ser
ENST00000340650.4:c.76T>A	ENSP00000345464.3:p.Cys26Ser
NM_198586.2:c.76T>A	NP_940988.2:p.Cys26Ser
NM_198586.3:c.76T>A MANE Select	NP_940988.2:p.Cys26Ser