This is a test version of the ClinGen Allele Registry and hosts obsolete or unreal identifiers. Please visit here for the production version.
Canonical Allele Identifier: CA1010089045
Gene: HMCN1 HGNC NCBI
dbSNP:
1661461627
gnomAD v3:
1:186122888 T / C
gnomAD v4:
chr1-186122888-T-C
Joint Max Group AF 0.00000311 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00000208 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.186122888T>C , CM000663.2:g.186122888T>C GRCh38
NC_000001.10:g.186092020T>C , CM000663.1:g.186092020T>C GRCh37
NC_000001.9:g.184358643T>C NCBI36
NG_011841.1:g.393338T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000271588.9:c.12230-63T>C MANE Select ENSP00000271588.4:n.12230-63T>C
ENST00000271588.8:c.12230-63T>C ENSP00000271588.4:n.12230-63T>C
NM_031935.2:c.12230-63T>C NP_114141.2:n.12230-63T>C
XM_011510037.1:c.11945-63T>C XP_011508339.1:n.11945-63T>C
XM_011510038.1:c.12230-63T>C XP_011508340.1:n.12230-63T>C
XM_011510039.1:c.12230-63T>C XP_011508341.1:n.12230-63T>C
XM_011510038.3:c.12230-63T>C XP_011508340.1:n.12230-63T>C
XM_017002437.1:c.10253-63T>C XP_016857926.1:n.10253-63T>C
NM_031935.3:c.12230-63T>C MANE Select NP_114141.2:n.12230-63T>C
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