Canonical Allele Identifier: CA116907
Gene: BHLHE41 HGNC NCBI
SSPN HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.26122364G>C
GRCh37 chr12:g.26275297G>C
Revel Score:
ENST00000242728 (MANE Select) 0.601
gnomAD v2:
12:26275297 G / C
gnomAD v3:
12:26122364 G / C
gnomAD v4:
chr12-26122364-G-C
Joint Max Group AF 0.0000296 (NFE)
Genomes Max Group AF 0.00002008 (NFE)
Exomes Max Group AF 0.00002755 (NFE)
ClinVar RCV:
RCV000004788
ClinVar Variation:
4530
dbSNP:
121912617
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.26122364G>C , CM000674.2:g.26122364G>C GRCh38
NC_000012.11:g.26275297G>C , CM000674.1:g.26275297G>C GRCh37
NC_000012.10:g.26166564G>C NCBI36
NG_012011.2:g.5374G>C , LRG_209:g.5374G>C
NG_021173.1:g.7707C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000242728.5:c.1151C>G (BHLHE41) MANE Select ENSP00000242728.4:p.Pro384Arg
ENST00000242728.4:c.1151C>G (BHLHE41) ENSP00000242728.4:p.Pro384Arg
ENST00000534829.5:n.101+212G>C (SSPN)
ENST00000538142.5:c.-31+212G>C (SSPN) ENSP00000445360.1:n.-31+212G>C
NM_030762.2:c.1151C>G (BHLHE41) NP_110389.1:p.Pro384Arg
XM_011520853.1:c.-31+212G>C (SSPN) XP_011519155.1:n.-31+212G>C
XM_011520853.3:c.-31+212G>C (SSPN) XP_011519155.1:n.-31+212G>C
NM_030762.3:c.1151C>G (BHLHE41) MANE Select NP_110389.1:p.Pro384Arg
Search 100 bp 5'
Search 100 bp 3'