Canonical Allele Identifier: CA3649891
Gene: NHLRC1 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.18121617C>T
GRCh37 chr6:g.18121848C>T
gnomAD v2:
6:18121848 C / T
gnomAD v3:
6:18121617 C / T
gnomAD v4:
chr6-18121617-C-T
Joint Max Group AF 0.00015348 (AMR)
Genomes Max Group AF 0.00012856 (AMR)
Exomes Max Group AF 0.00015585 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.18121617C>T , CM000668.2:g.18121617C>T GRCh38
NC_000006.11:g.18121848C>T , CM000668.1:g.18121848C>T GRCh37
NC_000006.10:g.18229827C>T NCBI36
NG_016750.1:g.6004G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000340650.6:c.990G>A MANE Select ENSP00000345464.3:p.Gln330=
ENST00000340650.4:c.990G>A ENSP00000345464.3:p.Gln330=
NM_198586.2:c.990G>A NP_940988.2:p.Gln330=
NM_198586.3:c.990G>A MANE Select NP_940988.2:p.Gln330=
Search 100 bp 5'
Search 100 bp 3'