Canonical Allele Identifier: CA115629

Gene: NHLRC1

Linked Data

• ClinVar Variation Id: 2587
• ClinVar RCV Id: RCV000002705 ; RCV000188208 ; RCV000192026 ; RCV003952338
• dbSNP Id: rs28940576
• ExAC: 6:18122633 G / C
• gnomAD v2: 6-18122633-G-C
• gnomAD v3: 6-18122402-G-C
• gnomAD v4: 6-18122402-G-C
• MyVariant Identifiers: chr6:g.18122633G>C (hg19) ; chr6:g.18122402G>C (hg38)
• PubMed: PMID:12958597 ; PMID:12960212 ; PMID:15781812 ; PMID:16311711 ; PMID:16529633 ; PMID:20301563

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.18122402G>C , CM000668.2:g.18122402G>C	GRCh38
NC_000006.11:g.18122633G>C , CM000668.1:g.18122633G>C	GRCh37
NC_000006.10:g.18230612G>C	NCBI36
NG_016750.1:g.5219C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340650.6:c.205C>G MANE Select	ENSP00000345464.3:p.Pro69Ala
ENST00000340650.4:c.205C>G	ENSP00000345464.3:p.Pro69Ala
NM_198586.2:c.205C>G	NP_940988.2:p.Pro69Ala
NM_198586.3:c.205C>G MANE Select	NP_940988.2:p.Pro69Ala