Canonical Allele Identifier: CA115635

Gene: NHLRC1

Linked Data

• ClinVar Variation Id: 2591
• ClinVar RCV Id: RCV000002709 ; RCV000192028 ; RCV001818119
• dbSNP Id: rs121917876
• MyVariant Identifiers: chr6:g.18122245A>T (hg19) ; chr6:g.18122014A>T (hg38)
• PubMed: PMID:15781812 ; PMID:20301563

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.18122014A>T , CM000668.2:g.18122014A>T	GRCh38
NC_000006.11:g.18122245A>T , CM000668.1:g.18122245A>T	GRCh37
NC_000006.10:g.18230224A>T	NCBI36
NG_016750.1:g.5607T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340650.6:c.593T>A MANE Select	ENSP00000345464.3:p.Ile198Asn
ENST00000340650.4:c.593T>A	ENSP00000345464.3:p.Ile198Asn
NM_198586.2:c.593T>A	NP_940988.2:p.Ile198Asn
NM_198586.3:c.593T>A MANE Select	NP_940988.2:p.Ile198Asn