Canonical Allele Identifier: CA316028

Gene: NHLRC1

Linked Data

• ClinVar Variation Id: 162618
• ClinVar RCV Id: RCV000192027 ; RCV000188209 ; RCV001169931 ; RCV002326860 ; RCV003989327
• dbSNP Id: rs769301934
• ExAC: 6:18122402 C / T
• gnomAD v2: 6-18122402-C-T
• gnomAD v3: 6-18122171-C-T
• gnomAD v4: 6-18122171-C-T
• MyVariant Identifiers: chr6:g.18122402C>T (hg19) ; chr6:g.18122171C>T (hg38)
• PubMed: PMID:15781812 ; PMID:16190947 ; PMID:16529633 ; PMID:20301563

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.18122171C>T , CM000668.2:g.18122171C>T	GRCh38
NC_000006.11:g.18122402C>T , CM000668.1:g.18122402C>T	GRCh37
NC_000006.10:g.18230381C>T	NCBI36
NG_016750.1:g.5450G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340650.6:c.436G>A MANE Select	ENSP00000345464.3:p.Asp146Asn
ENST00000340650.4:c.436G>A	ENSP00000345464.3:p.Asp146Asn
NM_198586.2:c.436G>A	NP_940988.2:p.Asp146Asn
NM_198586.3:c.436G>A MANE Select	NP_940988.2:p.Asp146Asn