Canonical Allele Identifier: CA316031
Gene: NHLRC1 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.18122221G>T
GRCh37 chr6:g.18122452G>T
Revel Score:
ENST00000340650 (MANE Select) 0.960
gnomAD v2:
6:18122452 G / T
gnomAD v3:
6:18122221 G / T
gnomAD v4:
chr6-18122221-G-T
Joint Max Group AF 0.00000803 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00000731 (NFE)
ClinVar Allele:
201961
ClinVar RCV:
RCV000188211
RCV000602467
ClinVar Variation:
206187
dbSNP:
750465793
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.18122221G>T , CM000668.2:g.18122221G>T GRCh38
NC_000006.11:g.18122452G>T , CM000668.1:g.18122452G>T GRCh37
NC_000006.10:g.18230431G>T NCBI36
NG_016750.1:g.5400C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000340650.6:c.386C>A MANE Select ENSP00000345464.3:p.Pro129His
ENST00000340650.4:c.386C>A ENSP00000345464.3:p.Pro129His
NM_198586.2:c.386C>A NP_940988.2:p.Pro129His
NM_198586.3:c.386C>A MANE Select NP_940988.2:p.Pro129His
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