Canonical Allele Identifier: CA448958136
Gene: NHLRC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1158657
ClinVar RCV Id: RCV001502124
dbSNP Id: rs1414840416
gnomAD v2: 6-18122313-C-T
gnomAD v4: 6-18122082-C-T
MyVariant Identifiers: chr6:g.18122313C>T (hg19) chr6:g.18122082C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.18122082C>T , CM000668.2:g.18122082C>T GRCh38
NC_000006.11:g.18122313C>T , CM000668.1:g.18122313C>T GRCh37
NC_000006.10:g.18230292C>T NCBI36
NG_016750.1:g.5539G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000340650.6:c.525G>A MANE Select ENSP00000345464.3:p.Arg175=
ENST00000340650.4:c.525G>A ENSP00000345464.3:p.Arg175=
NM_198586.2:c.525G>A NP_940988.2:p.Arg175=
NM_198586.3:c.525G>A MANE Select NP_940988.2:p.Arg175=
Search 100 bp 5'
Search 100 bp 3'