Canonical Allele Identifier: CA316014
Gene: NHLRC1 HGNC NCBI
COSMIC:
COSM4706837 (not active)
MyVariant.info:
GRCh38 chr6:g.18121638G>A
GRCh37 chr6:g.18121869G>A
gnomAD v2:
6:18121869 G / A
gnomAD v3:
6:18121638 G / A
gnomAD v4:
chr6-18121638-G-A
Joint Max Group AF 0.00040797 (SAS)
Genomes Max Group AF 0.0002304 (NFE)
Exomes Max Group AF 0.00040053 (SAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.18121638G>A , CM000668.2:g.18121638G>A GRCh38
NC_000006.11:g.18121869G>A , CM000668.1:g.18121869G>A GRCh37
NC_000006.10:g.18229848G>A NCBI36
NG_016750.1:g.5983C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000340650.6:c.969C>T MANE Select ENSP00000345464.3:p.Ser323=
ENST00000340650.4:c.969C>T ENSP00000345464.3:p.Ser323=
NM_198586.2:c.969C>T NP_940988.2:p.Ser323=
NM_198586.3:c.969C>T MANE Select NP_940988.2:p.Ser323=
Search 100 bp 5'
Search 100 bp 3'