Canonical Allele Identifier: CA316035

Gene: NHLRC1

Linked Data

• ClinVar Variation Id: 206189
• ClinVar RCV Id: RCV000188213 ; RCV001078586 ; RCV002517002 ; RCV003967481
• dbSNP Id: rs200595273
• ExAC: 6:18122360 A / G
• gnomAD v2: 6-18122360-A-G
• gnomAD v3: 6-18122129-A-G
• gnomAD v4: 6-18122129-A-G
• MyVariant Identifiers: chr6:g.18122360A>G (hg19) ; chr6:g.18122129A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.18122129A>G , CM000668.2:g.18122129A>G	GRCh38
NC_000006.11:g.18122360A>G , CM000668.1:g.18122360A>G	GRCh37
NC_000006.10:g.18230339A>G	NCBI36
NG_016750.1:g.5492T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340650.6:c.478T>C MANE Select	ENSP00000345464.3:p.Cys160Arg
ENST00000340650.4:c.478T>C	ENSP00000345464.3:p.Cys160Arg
NM_198586.2:c.478T>C	NP_940988.2:p.Cys160Arg
NM_198586.3:c.478T>C MANE Select	NP_940988.2:p.Cys160Arg