Canonical Allele Identifier: CA238539
Gene: CRH HGNC NCBI
MyVariant.info:
GRCh38 chr8:g.66177389G>C
GRCh37 chr8:g.67089624G>C
Revel Score:
ENST00000276571 (MANE Select) 0.141
gnomAD v2:
8:67089624 G / C
gnomAD v3:
8:66177389 G / C
gnomAD v4:
chr8-66177389-G-C
Joint Max Group AF 0.00024787 (NFE)
Genomes Max Group AF 0.00014676 (NFE)
Exomes Max Group AF 0.00024956 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.66177389G>C , CM000670.2:g.66177389G>C GRCh38
NC_000008.10:g.67089624G>C , CM000670.1:g.67089624G>C GRCh37
NC_000008.9:g.67252178G>C NCBI36
NG_016127.1:g.6075C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000276571.5:c.89C>G MANE Select ENSP00000276571.3:p.Pro30Arg
ENST00000276571.4:c.89C>G ENSP00000276571.3:p.Pro30Arg
NM_000756.2:c.89C>G NP_000747.1:p.Pro30Arg
NM_000756.3:c.89C>G NP_000747.1:p.Pro30Arg
NM_000756.4:c.89C>G MANE Select NP_000747.1:p.Pro30Arg
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