Canonical Allele Identifier: CA35732624
Gene: REN HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.204155737C>G
GRCh37 chr1:g.204124865C>G
gnomAD v2:
1:204124865 C / G
gnomAD v3:
1:204155737 C / G
gnomAD v4:
chr1-204155737-C-G
Joint Max Group AF 0.00730964 (AFR)
Genomes Max Group AF 0.00718239 (AFR)
Exomes Max Group AF 0.00691711 (AFR)
dbSNP:
2368564
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.204155737C>G , CM000663.2:g.204155737C>G GRCh38
NC_000001.10:g.204124865C>G , CM000663.1:g.204124865C>G GRCh37
NC_000001.9:g.202391488C>G NCBI36
NG_012122.1:g.15601G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000272190.9:c.1059+83G>C MANE Select ENSP00000272190.8:n.1059+83G>C
ENST00000638118.1:c.945+83G>C ENSP00000490307.1:n.945+83G>C
ENST00000272190.8:c.1059+83G>C ENSP00000272190.8:n.1059+83G>C
NM_000537.3:c.1059+83G>C NP_000528.1:n.1059+83G>C
NM_000537.4:c.1059+83G>C MANE Select NP_000528.1:n.1059+83G>C
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