Canonical Allele Identifier: CA115628
Gene: NHLRC1 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.18122531A>T
GRCh37 chr6:g.18122762A>T
Revel Score:
ENST00000340650 (MANE Select) 0.863
gnomAD v2:
6:18122762 A / T
gnomAD v3:
6:18122531 A / T
gnomAD v4:
chr6-18122531-A-T
Joint Max Group AF 0.00000429 (NFE)
Exomes Max Group AF 0.00000381 (NFE)
ClinVar Allele:
17625
ClinVar RCV:
RCV000002704
RCV000192025
RCV000483691
ClinVar Variation:
2586
dbSNP:
28940575
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.18122531A>T , CM000668.2:g.18122531A>T GRCh38
NC_000006.11:g.18122762A>T , CM000668.1:g.18122762A>T GRCh37
NC_000006.10:g.18230741A>T NCBI36
NG_016750.1:g.5090T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000340650.6:c.76T>A MANE Select ENSP00000345464.3:p.Cys26Ser
ENST00000340650.4:c.76T>A ENSP00000345464.3:p.Cys26Ser
NM_198586.2:c.76T>A NP_940988.2:p.Cys26Ser
NM_198586.3:c.76T>A MANE Select NP_940988.2:p.Cys26Ser
Search 100 bp 5'
Search 100 bp 3'