Canonical Allele Identifier: CA316020
Gene: NHLRC1 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.18121516G>A
GRCh37 chr6:g.18121747G>A
Revel Score:
ENST00000340650 (MANE Select) 0.319
gnomAD v2:
6:18121747 G / A
gnomAD v3:
6:18121516 G / A
gnomAD v4:
chr6-18121516-G-A
Joint Max Group AF 0.00240929 (EAS)
Genomes Max Group AF 0.00104782 (EAS)
Exomes Max Group AF 0.00249002 (EAS)
ClinVar Allele:
201950
ClinVar RCV:
RCV000188203
RCV000638342
RCV002317125
ClinVar Variation:
206182
dbSNP:
78324544
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.18121516G>A , CM000668.2:g.18121516G>A GRCh38
NC_000006.11:g.18121747G>A , CM000668.1:g.18121747G>A GRCh37
NC_000006.10:g.18229726G>A NCBI36
NG_016750.1:g.6105C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000340650.6:c.1091C>T MANE Select ENSP00000345464.3:p.Ser364Leu
ENST00000340650.4:c.1091C>T ENSP00000345464.3:p.Ser364Leu
NM_198586.2:c.1091C>T NP_940988.2:p.Ser364Leu
NM_198586.3:c.1091C>T MANE Select NP_940988.2:p.Ser364Leu
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