Canonical Allele Identifier: CA1294307
Gene: HMCN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 294246
ClinVar RCV Id: RCV000265611 RCV002059390
dbSNP Id: rs2057388
ExAC: 1:186092076 A / C
gnomAD v2: 1-186092076-A-C
gnomAD v3: 1-186122944-A-C
gnomAD v4: 1-186122944-A-C
MyVariant Identifiers: chr1:g.186092076A>C (hg19) chr1:g.186122944A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.186122944A>C , CM000663.2:g.186122944A>C GRCh38
NC_000001.10:g.186092076A>C , CM000663.1:g.186092076A>C GRCh37
NC_000001.9:g.184358699A>C NCBI36
NG_011841.1:g.393394A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000271588.9:c.12230-7A>C MANE Select ENSP00000271588.4:n.12230-7A>C
ENST00000271588.8:c.12230-7A>C ENSP00000271588.4:n.12230-7A>C
NM_031935.2:c.12230-7A>C NP_114141.2:n.12230-7A>C
XM_011510037.1:c.11945-7A>C XP_011508339.1:n.11945-7A>C
XM_011510038.1:c.12230-7A>C XP_011508340.1:n.12230-7A>C
XM_011510039.1:c.12230-7A>C XP_011508341.1:n.12230-7A>C
XM_011510038.3:c.12230-7A>C XP_011508340.1:n.12230-7A>C
XM_017002437.1:c.10253-7A>C XP_016857926.1:n.10253-7A>C
NM_031935.3:c.12230-7A>C MANE Select NP_114141.2:n.12230-7A>C
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