Canonical Allele Identifier: CA239051

Gene: NHLRC1

Linked Data

• ClinVar Variation Id: 193518
• ClinVar RCV Id: RCV000188197 ; RCV000724005 ; RCV001079742 ; RCV002336420 ; RCV003965245
• dbSNP Id: rs146636139
• ExAC: 6:18122792 T / C
• gnomAD v2: 6-18122792-T-C
• gnomAD v3: 6-18122561-T-C
• gnomAD v4: 6-18122561-T-C
• MyVariant Identifiers: chr6:g.18122792T>C (hg19) ; chr6:g.18122561T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.18122561T>C , CM000668.2:g.18122561T>C	GRCh38
NC_000006.11:g.18122792T>C , CM000668.1:g.18122792T>C	GRCh37
NC_000006.10:g.18230771T>C	NCBI36
NG_016750.1:g.5060A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340650.6:c.46A>G MANE Select	ENSP00000345464.3:p.Met16Val
ENST00000340650.4:c.46A>G	ENSP00000345464.3:p.Met16Val
NM_198586.2:c.46A>G	NP_940988.2:p.Met16Val
NM_198586.3:c.46A>G MANE Select	NP_940988.2:p.Met16Val