Canonical Allele Identifier: CA1294976
Gene: HMCN1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.186145831G>A
GRCh37 chr1:g.186114963G>A
Revel Score:
ENST00000271588 (MANE Select) 0.476
ENST00000367492 0.476
gnomAD v2:
1:186114963 G / A
gnomAD v3:
1:186145831 G / A
gnomAD v4:
chr1-186145831-G-A
Joint Max Group AF 0.00007242 (NFE)
Genomes Max Group AF 0.00005843 (NFE)
Exomes Max Group AF 0.00007047 (NFE)
ClinVar Allele:
1936715
ClinVar RCV:
RCV003106421
RCV003455759
RCV004244516
ClinVar Variation:
2414088
dbSNP:
777456781
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.186145831G>A , CM000663.2:g.186145831G>A GRCh38
NC_000001.10:g.186114963G>A , CM000663.1:g.186114963G>A GRCh37
NC_000001.9:g.184381586G>A NCBI36
NG_011841.1:g.416281G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000271588.9:c.14516G>A MANE Select ENSP00000271588.4:p.Arg4839Gln
ENST00000271588.8:c.14516G>A ENSP00000271588.4:p.Arg4839Gln
NM_031935.2:c.14516G>A NP_114141.2:p.Arg4839Gln
XM_011510037.1:c.14231G>A XP_011508339.1:p.Arg4744Gln
XM_011510038.1:c.14516G>A XP_011508340.1:p.Arg4839Gln
XM_011510038.3:c.14516G>A XP_011508340.1:p.Arg4839Gln
XM_017002437.1:c.12539G>A XP_016857926.1:p.Arg4180Gln
NM_031935.3:c.14516G>A MANE Select NP_114141.2:p.Arg4839Gln
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