Canonical Allele Identifier: CA115629
Gene: NHLRC1 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.18122402G>C
GRCh37 chr6:g.18122633G>C
Revel Score:
ENST00000340650 (MANE Select) 0.846
gnomAD v2:
6:18122633 G / C
gnomAD v3:
6:18122402 G / C
gnomAD v4:
chr6-18122402-G-C
Joint Max Group AF 0.0001374 (NFE)
Genomes Max Group AF 0.00009046 (NFE)
Exomes Max Group AF 0.00013604 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.18122402G>C , CM000668.2:g.18122402G>C GRCh38
NC_000006.11:g.18122633G>C , CM000668.1:g.18122633G>C GRCh37
NC_000006.10:g.18230612G>C NCBI36
NG_016750.1:g.5219C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000340650.6:c.205C>G MANE Select ENSP00000345464.3:p.Pro69Ala
ENST00000340650.4:c.205C>G ENSP00000345464.3:p.Pro69Ala
NM_198586.2:c.205C>G NP_940988.2:p.Pro69Ala
NM_198586.3:c.205C>G MANE Select NP_940988.2:p.Pro69Ala
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