Canonical Allele Identifier: CA316033

Gene: NHLRC1

Linked Data

• ClinVar Variation Id: 206188
• ClinVar RCV Id: RCV000188212 ; RCV001082176 ; RCV002314733 ; RCV003917716
• dbSNP Id: rs143537405
• ExAC: 6:18122416 A / G
• gnomAD v2: 6-18122416-A-G
• gnomAD v3: 6-18122185-A-G
• gnomAD v4: 6-18122185-A-G
• MyVariant Identifiers: chr6:g.18122416A>G (hg19) ; chr6:g.18122185A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.18122185A>G , CM000668.2:g.18122185A>G	GRCh38
NC_000006.11:g.18122416A>G , CM000668.1:g.18122416A>G	GRCh37
NC_000006.10:g.18230395A>G	NCBI36
NG_016750.1:g.5436T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340650.6:c.422T>C MANE Select	ENSP00000345464.3:p.Val141Ala
ENST00000340650.4:c.422T>C	ENSP00000345464.3:p.Val141Ala
NM_198586.2:c.422T>C	NP_940988.2:p.Val141Ala
NM_198586.3:c.422T>C MANE Select	NP_940988.2:p.Val141Ala